(used for variant description)
(last modified February 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001145808.1 in the ITGAM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011719.1, covering ITGAM transcript NM_001145808.1.
(upstream sequence)
. . . g.5038
ttttctgcccttctttgctttggtggcttccttgtggt c.-61
. . . . . . g.5098
tcctcagtggtgcctgcaacccctggttcacctccttccaggttctggctccttccagcc c.-1
. . | 02 . . . g.6757
ATGGCTCTCAGAGTCCTTCTGTTAACAG | CCTTGACCTTATGTCATGGGTTCAACTTGGAC c.60
M A L R V L L L T A | L T L C H G F N L D p.20
. . . . . . g.6817
ACTGAAAACGCAATGACCTTCCAAGAGAACGCAAGGGGCTTCGGGCAGAGCGTGGTCCAG c.120
T E N A M T F Q E N A R G F G Q S V V Q p.40
. | 03 . . . . . g.10474
CTTCAGGGATCCAG | GGTGGTGGTTGGAGCCCCCCAGGAGATAGTGGCTGCCAACCAAAGG c.180
L Q G S R | V V V G A P Q E I V A A N Q R p.60
. . . . . | 04 g.10846
GGCAGCCTCTACCAGTGCGACTACAGCACAGGCTCATGCGAGCCCATCCGCCTGCAGG | TC c.240
G S L Y Q C D Y S T G S C E P I R L Q V | p.80
. . . . . . g.10906
CCCGTGGAGGCCGTGAACATGTCCCTGGGCCTGTCCCTGGCAGCCACCACCAGCCCCCCT c.300
P V E A V N M S L G L S L A A T T S P P p.100
| 05 . . . . . g.11114
CAGCTGCTG | GCCTGTGGTCCCACCGTGCACCAGACTTGCAGTGAGAACACGTATGTGAAA c.360
Q L L | A C G P T V H Q T C S E N T Y V K p.120
. . . . . . g.11174
GGGCTCTGCTTCCTGTTTGGATCCAACCTACGGCAGCAGCCCCAGAAGTTCCCAGAGGCC c.420
G L C F L F G S N L R Q Q P Q K F P E A p.140
| 06. . . . . . g.16040
CTCCGAG | GGTGTCCTCAAGAGGATAGTGACATTGCCTTCTTGATTGATGGCTCTGGTAGC c.480
L R G | C P Q E D S D I A F L I D G S G S p.160
. . . . . . g.16100
ATCATCCCACATGACTTTCGGCGGATGAAGGAGTTTGTCTCAACTGTGATGGAGCAATTA c.540
I I P H D F R R M K E F V S T V M E Q L p.180
. | 07 . . . . g.16922
AAAAAGTCCAAAACCTTG | TTCTCTTTGATGCAGTACTCTGAAGAATTCCGGATTCACTTT c.600
K K S K T L | F S L M Q Y S E E F R I H F p.200
. . . . . . g.16982
ACCTTCAAAGAGTTCCAGAACAACCCTAACCCAAGATCACTGGTGAAGCCAATAACGCAG c.660
T F K E F Q N N P N P R S L V K P I T Q p.220
. . . . | 08 . . g.18414
CTGCTTGGGCGGACACACACGGCCACGGGCATCCGCAAAGTGGT | ACGAGAGCTGTTTAAC c.720
L L G R T H T A T G I R K V V | R E L F N p.240
. . . . . . g.18474
ATCACCAACGGAGCCCGAAAGAATGCCTTTAAGATCCTAGTTGTCATCACGGATGGAGAA c.780
I T N G A R K N A F K I L V V I T D G E p.260
. . . . . . g.18534
AAGTTTGGCGATCCCTTGGGATATGAGGATGTCATCCCTGAGGCAGACAGAGAGGGAGTC c.840
K F G D P L G Y E D V I P E A D R E G V p.280
. | 09 . . . . g.20624
ATTCGCTACGTCATTGGG | GTGGGAGATGCCTTCCGCAGTGAGAAATCCCGCCAAGAGCTT c.900
I R Y V I G | V G D A F R S E K S R Q E L p.300
. . . . . . g.20684
AATACCATCGCATCCAAGCCGCCTCGTGATCACGTGTTCCAGGTGAATAACTTTGAGGCT c.960
N T I A S K P P R D H V F Q V N N F E A p.320
. . . . | 10 . g.21715
CTGAAGACCATTCAGAACCAGCTTCGGGAGAAGATCTTTGCGATCGAGG | GTACTCAGACA c.1020
L K T I Q N Q L R E K I F A I E G | T Q T p.340
. . . . . . g.21775
GGAAGTAGCAGCTCCTTTGAGCATGAGATGTCTCAGGAAGGCTTCAGCGCTGCCATCACC c.1080
G S S S S F E H E M S Q E G F S A A I T p.360
| 11 . . . . . . g.22010
TCT | AATGGCCCCTTGCTGAGCACTGTGGGGAGCTATGACTGGGCTGGTGGAGTCTTTCTA c.1140
S | N G P L L S T V G S Y D W A G G V F L p.380
. . . . . . g.22070
TATACATCAAAGGAGAAAAGCACCTTCATCAACATGACCAGAGTGGATTCAGACATGAAT c.1200
Y T S K E K S T F I N M T R V D S D M N p.400
. | 12 . . . . . g.23047
GATGCTTACTTGG | GTTATGCTGCCGCCATCATCTTACGGAACCGGGTGCAAAGCCTGGTT c.1260
D A Y L G | Y A A A I I L R N R V Q S L V p.420
. . . . . . g.23107
CTGGGGGCACCTCGATATCAGCACATCGGCCTGGTAGCGATGTTCAGGCAGAACACTGGC c.1320
L G A P R Y Q H I G L V A M F R Q N T G p.440
. . . | 13 . . . g.42571
ATGTGGGAGTCCAACGCTAATGTCAAGGGCACCCAG | ATCGGCGCCTACTTCGGGGCCTCC c.1380
M W E S N A N V K G T Q | I G A Y F G A S p.460
. . . . . . g.42631
CTCTGCTCCGTGGACGTGGACAGCAACGGCAGCACCGACCTGGTCCTCATCGGGGCCCCC c.1440
L C S V D V D S N G S T D L V L I G A P p.480
. . . . . | 14. g.42778
CATTACTACGAGCAGACCCGAGGGGGCCAGGTGTCCGTGTGCCCCTTGCCCAGGGGG | CAG c.1500
H Y Y E Q T R G G Q V S V C P L P R G | Q p.500
. . . . . . g.42838
AGGGCTCGGTGGCAGTGTGATGCTGTTCTCTACGGGGAGCAGGGCCAACCCTGGGGCCGC c.1560
R A R W Q C D A V L Y G E Q G Q P W G R p.520
. . . . . . g.42898
TTTGGGGCAGCCCTAACAGTGCTGGGGGACGTAAATGGGGACAAGCTGACGGACGTGGCC c.1620
F G A A L T V L G D V N G D K L T D V A p.540
. . . . . . g.42958
ATTGGGGCCCCAGGAGAGGAGGACAACCGGGGTGCTGTTTACCTGTTTCACGGAACCTCA c.1680
I G A P G E E D N R G A V Y L F H G T S p.560
. . . | 15 . . . g.66304
GGATCTGGCATCAGCCCCTCCCATAGCCAG | CGGATAGCAGGCTCCAAGCTCTCTCCCAGG c.1740
G S G I S P S H S Q | R I A G S K L S P R p.580
. . . . . . g.66364
CTCCAGTATTTTGGTCAGTCACTGAGTGGGGGCCAGGACCTCACAATGGATGGACTGGTA c.1800
L Q Y F G Q S L S G G Q D L T M D G L V p.600
. . . . | 16 . . g.66516
GACCTGACTGTAGGAGCCCAGGGGCACGTGCTGCTGCTCAG | GTCCCAGCCAGTACTGAGA c.1860
D L T V G A Q G H V L L L R | S Q P V L R p.620
. . . . . . g.66576
GTCAAGGCAATCATGGAGTTCAATCCCAGGGAAGTGGCAAGGAATGTATTTGAGTGTAAT c.1920
V K A I M E F N P R E V A R N V F E C N p.640
. . . . . . g.66636
GATCAGGTGGTGAAAGGCAAGGAAGCCGGAGAGGTCAGAGTCTGCCTCCATGTCCAGAAG c.1980
D Q V V K G K E A G E V R V C L H V Q K p.660
. . | 17 . . . . g.69467
AGCACACGGGATCGGCTAAGAGAAG | GACAGATCCAGAGTGTTGTGACTTATGACCTGGCT c.2040
S T R D R L R E G | Q I Q S V V T Y D L A p.680
. . . . . . g.69527
CTGGACTCCGGCCGCCCACATTCCCGCGCCGTCTTCAATGAGACAAAGAACAGCACACGC c.2100
L D S G R P H S R A V F N E T K N S T R p.700
. . . . . . g.69587
AGACAGACACAGGTCTTGGGGCTGACCCAGACTTGTGAGACCCTGAAACTACAGTTGCCG c.2160
R Q T Q V L G L T Q T C E T L K L Q L P p.720
| 18 . . . . . . g.69744
| AATTGCATCGAGGACCCAGTGAGCCCCATTGTGCTGCGCCTGAACTTCTCTCTGGTGGGA c.2220
| N C I E D P V S P I V L R L N F S L V G p.740
. . . . . . g.69804
ACGCCATTGTCTGCTTTCGGGAACCTCCGGCCAGTGCTGGCGGAGGATGCTCAGAGACTC c.2280
T P L S A F G N L R P V L A E D A Q R L p.760
. | 19 . . . . . g.70039
TTCACAGCCTTG | TTTCCCTTTGAGAAGAATTGTGGCAATGACAACATCTGCCAGGATGAC c.2340
F T A L | F P F E K N C G N D N I C Q D D p.780
. . | 20 . . . . g.70330
CTCAGCATCACCTTCAGTTTCATGAG | CCTGGACTGCCTCGTGGTGGGTGGGCCCCGGGAG c.2400
L S I T F S F M S | L D C L V V G G P R E p.800
. . . . . . g.70390
TTCAACGTGACAGTGACTGTGAGAAATGATGGTGAGGACTCCTACAGGACACAGGTCACC c.2460
F N V T V T V R N D G E D S Y R T Q V T p.820
. . . . | 21 . g.70545
TTCTTCTTCCCGCTTGACCTGTCCTACCGGAAGGTGTCCACGCTCCAG | AACCAGCGCTCA c.2520
F F F P L D L S Y R K V S T L Q | N Q R S p.840
. . . . . . g.70605
CAGCGATCCTGGCGCCTGGCCTGTGAGTCTGCCTCCTCCACCGAAGTGTCTGGGGCCTTG c.2580
Q R S W R L A C E S A S S T E V S G A L p.860
. . . . . | 22 . g.71898
AAGAGCACCAGCTGCAGCATAAACCACCCCATCTTCCCGGAAAACTCAGAG | GTCACCTTT c.2640
K S T S C S I N H P I F P E N S E | V T F p.880
. . . . . . g.71958
AATATCACGTTTGATGTAGACTCTAAGGCTTCCCTTGGAAACAAACTGCTCCTCAAGGCC c.2700
N I T F D V D S K A S L G N K L L L K A p.900
. | 23 . . . . . g.73229
AATGTGACCAG | TGAGAACAACATGCCCAGAACCAACAAAACCGAATTCCAACTGGAGCTG c.2760
N V T S | E N N M P R T N K T E F Q L E L p.920
. . . | 24 . . . g.74286
CCGGTGAAATATGCTGTCTACATGGTGGTCACCAG | CCATGGGGTCTCCACTAAATATCTC c.2820
P V K Y A V Y M V V T S | H G V S T K Y L p.940
. . . . . | 25 . g.74840
AACTTCACGGCCTCAGAGAATACCAGTCGGGTCATGCAGCATCAATATCAG | GTCAGCAAC c.2880
N F T A S E N T S R V M Q H Q Y Q | V S N p.960
. . . . . . g.74900
CTGGGGCAGAGGAGCCTCCCCATCAGCCTGGTGTTCTTGGTGCCCGTCCGGCTGAACCAG c.2940
L G Q R S L P I S L V F L V P V R L N Q p.980
. . . | 26 . . g.75135
ACTGTCATATGGGACCGCCCCCAGGTCACCTTCTCCGAG | AACCTCTCGAGTACGTGCCAC c.3000
T V I W D R P Q V T F S E | N L S S T C H p.1000
. . . . . . g.75195
ACCAAGGAGCGCTTGCCCTCTCACTCCGACTTTCTGGCTGAGCTTCGGAAGGCCCCCGTG c.3060
T K E R L P S H S D F L A E L R K A P V p.1020
| 27 . . . . . . g.75398
GTG | AACTGCTCCATCGCTGTCTGCCAGAGAATCCAGTGTGACATCCCGTTCTTTGGCATC c.3120
V | N C S I A V C Q R I Q C D I P F F G I p.1040
. . . . . | 28. g.75540
CAGGAAGAATTCAATGCTACCCTCAAAGGCAACCTCTCGTTTGACTGGTACATCAAG | ACC c.3180
Q E E F N A T L K G N L S F D W Y I K | T p.1060
. . . . . . g.75600
TCGCATAACCACCTCCTGATCGTGAGCACAGCTGAGATCTTGTTTAACGATTCCGTGTTC c.3240
S H N H L L I V S T A E I L F N D S V F p.1080
. . . | 29 . . g.76219
ACCCTGCTGCCGGGACAGGGGGCGTTTGTGAGGTCCCAG | ACGGAGACCAAAGTGGAGCCG c.3300
T L L P G Q G A F V R S Q | T E T K V E P p.1100
. . . . . . g.76279
TTCGAGGTCCCCAACCCCCTGCCGCTCATCGTGGGCAGCTCTGTCGGGGGACTGCTGCTC c.3360
F E V P N P L P L I V G S S V G G L L L p.1120
. . . | 30 . . . g.76699
CTGGCCCTCATCACCGCCGCGCTGTACAAG | CTCGGCTTCTTCAAGCGGCAATACAAGGAC c.3420
L A L I T A A L Y K | L G F F K R Q Y K D p.1140
. . . . g.76741
ATGATGAGTGAAGGGGGTCCCCCGGGGGCCGAACCCCAGTAG c.3462
M M S E G G P P G A E P Q X p.1153
. . . . . . g.76801
cggctccttcccgacagagctgcctctcggtggccagcaggactctgcccagaccacacg c.*60
. . . . . . g.76861
tagcccccaggctgctggacacgtcggacagcgaagtatccccgacaggacgggcttggg c.*120
. . . . . . g.76921
cttccatttgtgtgtgtgcaagtgtgtatgtgcgtgtgtgcaagtgtctgtgtgcaagtg c.*180
. . . . . . g.76981
tgtgcacatgtgtgcgtgtgcgtgcatgtgcacttgcacgcccatgtgtgagtgtgtgca c.*240
. . . . . . g.77041
agtatgtgagtgtgtccaagtgtgtgtgcgtgtgtccatgtgtgtgcaagtgtgtgcatg c.*300
. . . . . . g.77101
tgtgcgagtgtgtgcatgtgtgtgctcaggggcgtgtggctcacgtgtgtgactcagatg c.*360
. . . . . . g.77161
tctctggcgtgtgggtaggtgacggcagcgtagcctctccggcagaagggaactgcctgg c.*420
. . . . . . g.77221
gctcccttgtgcgtgggtgaagccgctgctgggttttcctccgggagaggggacggtcaa c.*480
. . . . . . g.77281
tcctgtgggtgaagacagagggaaacacagcagcttctctccactgaaagaagtgggact c.*540
. . . . . . g.77341
tcccgtcgcctgcgagcctgcggcctgctggagcctgcgcagcttggatggagactccat c.*600
. . . . . . g.77401
gagaagccgtgggtggaaccaggaacctcctccacaccagcgctgatgcccaataaagat c.*660
. . . . . . g.77461
gcccactgaggaatgatgaagcttcctttctggattcatttattatttcaatgtgacttt c.*720
. . . . . . g.77521
aattttttggatggataagcttgtctatggtacaaaaatcacaaggcattcaagtgtaca c.*780
. . . . . . g.77581
gtgaaaagtctccctttccagatattcaagtcacctccttaaaggtagtcaagattgtgt c.*840
. . . . . . g.77641
tttgaggtttccttcagacagattccaggcgatgtgcaagtgtatgcacgtgtgcacaca c.*900
. . . . . . g.77701
caccacacatacacacacacaagcttttttacacaaatggtagcatactttatattggtc c.*960
. . . . . . g.77761
tgtatcttgctttttttcaccaatatttctcagacatcggttcatattaagacataaatt c.*1020
. . . . . . g.77821
actttttcattcttttataccgctgcatagtattccattgtgtgagtgtaccataatgta c.*1080
. . . . . . g.77881
tttaaccagtcttcttttgatatactattttcattctcttgttattgcatcaatgctgag c.*1140
. . . . g.77926
ttaataaatcaaatatatgtcatttttgcatatatgtaaggataa c.*1185
(downstream sequence)
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