(used for variant description)
(last modified December 23, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_021807.3 in the EXOC4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering EXOC4 transcript NM_021807.3.
(upstream sequence)
. . . g.5035
ttccttggagcctagcggctctccccgcgtccaag c.-1
. . . . . . g.5095
ATGGCGGCAGAAGCAGCTGGTGGGAAATACAGAAGCACAGTCAGCAAAAGCAAAGACCCC c.60
M A A E A A G G K Y R S T V S K S K D P p.20
. . | 02 . . . . g.26948
TCGGGGCTGCTCATCTCTGTGATCAG | GACTCTGTCTACTAGTGACGATGTCGAAGACAGG c.120
S G L L I S V I R | T L S T S D D V E D R p.40
. . . . . . g.27008
GAAAATGAAAAGGGTCGCCTTGAAGAAGCCTACGAGAAATGTGACCGTGACCTGGATGAA c.180
E N E K G R L E E A Y E K C D R D L D E p.60
. . . . . . g.27068
TTGATTGTACAGCACTACACAGAATTGACGACAGCCATTCGCACATACCAGAGCATCACA c.240
L I V Q H Y T E L T T A I R T Y Q S I T p.80
. . . | 03 . . . g.40877
GAGCGCATCACTAACTCCCGAAATAAAATAAAGCAG | GTAAAAGAGAACCTGCTTTCATGC c.300
E R I T N S R N K I K Q | V K E N L L S C p.100
. . . . . . g.40937
AAGATGCTGCTGCACTGCAAACGGGATGAGCTTCGGAAACTGTGGATTGAAGGAATTGAG c.360
K M L L H C K R D E L R K L W I E G I E p.120
. . . . . . g.40997
CATAAGCATGTCCTGAACTTGTTGGATGAAATTGAGAATATCAAGCAAGTGCCTCAAAAG c.420
H K H V L N L L D E I E N I K Q V P Q K p.140
. . . . . | 04 . g.57817
CTGGAACAGTGCATGGCCAGCAAGCACTATCTCAGTGCCACTGACATGTTG | GTGTCAGCA c.480
L E Q C M A S K H Y L S A T D M L | V S A p.160
. . . . . . g.57877
GTTGAGTCTTTGGAGGGCCCCCTGCTCCAGGTGGAAGGACTGAGTGACCTTCGACTAGAG c.540
V E S L E G P L L Q V E G L S D L R L E p.180
. . . . . . g.57937
CTTCACAGCAAGAAGATGAACCTTCACTTGGTTCTCATAGATGAACTACACCGGCACCTG c.600
L H S K K M N L H L V L I D E L H R H L p.200
. . . . . | 05 . g.69219
TACATCAAATCGACTAGCCGAGTTGTGCAGCGTAACAAGGAAAAAGGGAAAATCAG | CTCC c.660
Y I K S T S R V V Q R N K E K G K I S | S p.220
. . . . . . g.69279
CTCGTGAAAGATGCTTCTGTTCCTCTGATTGATGTTACAAACCTCCCTACTCCTCGAAAA c.720
L V K D A S V P L I D V T N L P T P R K p.240
. . . . | 06 . . g.108278
TTCCTTGATACCTCTCACTATTCTACTGCTGGAAGCTCAAGTG | TGAGGGAGATAAATCTG c.780
F L D T S H Y S T A G S S S V | R E I N L p.260
. . . . . . g.108338
CAGGACATCAAGGAAGATTTAGAATTGGATCCAGAGGAAAACAGCACCCTGTTTATGGGT c.840
Q D I K E D L E L D P E E N S T L F M G p.280
. . . . . . g.108398
ATCCTCATTAAGGGCTTGGCGAAACTGAAGAAGATCCCAGAAACAGTTAAGGCAATCATA c.900
I L I K G L A K L K K I P E T V K A I I p.300
. . . . . . g.108458
GAGCGCTTGGAGCAGGAGTTGAAGCAAATTGTGAAGAGGTCTACAACCCAGGTGGCAGAC c.960
E R L E Q E L K Q I V K R S T T Q V A D p.320
. . . . | 07. . g.126772
AGTGGCTATCAGCGGGGGGAGAACGTTACTGTGGAGAACCAACCAAG | GTTGCTTCTAGAA c.1020
S G Y Q R G E N V T V E N Q P R | L L L E p.340
. . . . . . g.126832
CTGCTGGAGTTACTGTTTGACAAGTTTAATGCTGTAGCCGCTGCACACTCTGTGGTCCTG c.1080
L L E L L F D K F N A V A A A H S V V L p.360
. . . . . . g.126892
GGATACCTGCAGGACACTGTAGTGACTCCACTGACTCAGCAGGAAGATATCAAACTGTAT c.1140
G Y L Q D T V V T P L T Q Q E D I K L Y p.380
. . . . | 08 . . g.227277
GATATGGCAGATGTATGGGTGAAGATCCAAGATGTTCTACAG | ATGCTATTAACTGAGTAC c.1200
D M A D V W V K I Q D V L Q | M L L T E Y p.400
. . . . . . g.227337
TTGGATATGAAAAATACTCGTACGGCCTCTGAACCATCAGCTCAACTAAGCTATGCCAGC c.1260
L D M K N T R T A S E P S A Q L S Y A S p.420
. . . . . . g.227397
ACTGGACGAGAGTTTGCAGCCTTTTTTGCCAAGAAGAAACCTCAAAGGCCAAAAAATTCT c.1320
T G R E F A A F F A K K K P Q R P K N S p.440
| 09 . . . . . g.232033
CTTTTCAA | GTTCGAATCGTCCTCCCATGCCATCAGTATGAGCGCCTATCTGCGAGAACAG c.1380
L F K | F E S S S H A I S M S A Y L R E Q p.460
. . . | 10. . . g.381998
AGAAGGGAGCTCTATAGTCGGAGTGGAGAACTGCAAG | GGGGTCCTGATGACAACTTAATT c.1440
R R E L Y S R S G E L Q G | G P D D N L I p.480
. . . . . . g.382058
GAAGGTGGAGGAACAAAATTTGTCTGCAAACCTGGAGCCAGAAACATTACCGTCATATTC c.1500
E G G G T K F V C K P G A R N I T V I F p.500
. | 11 . . . . . g.569301
CACCCATTACTAAG | ATTTATTCAGGAGATTGAGCATGCTCTGGGTCTTGGCCCAGCCAAA c.1560
H P L L R | F I Q E I E H A L G L G P A K p.520
. . . . . . g.569361
CAGTGTCCTCTTCGAGAGTTTCTCACCGTGTACATCAAAAACATCTTTCTCAATCAAGTC c.1620
Q C P L R E F L T V Y I K N I F L N Q V p.540
. . . . . . g.569421
TTGGCTGAGATCAACAAGGAGATTGAAGGAGTCACTAAAACATCTGACCCTTTGAAGATT c.1680
L A E I N K E I E G V T K T S D P L K I p.560
. . . . . | 12 . g.647535
CTGGCCAACGCAGACACCATGAAGGTGCTGGGAGTGCAGCGGCCTCTCCTACAG | AGCACA c.1740
L A N A D T M K V L G V Q R P L L Q | S T p.580
. . . . . . g.647595
ATCATTGTGGAGAAGACAGTTCAAGACCTCCTGAACCTGATGCATGACTTGAGTGCATAT c.1800
I I V E K T V Q D L L N L M H D L S A Y p.600
. . . . . . g.647655
TCAGATCAATTCCTCAACATGGTGTGCGTGAAGCTCCAGGAGTACAAGGACACCTGCACT c.1860
S D Q F L N M V C V K L Q E Y K D T C T p.620
. | 13 . . . . . g.669562
GCAGCTTACAG | GGGTATTGTCCAGTCAGAAGAAAAACTTGTCATCAGTGCATCCTGGGCA c.1920
A A Y R | G I V Q S E E K L V I S A S W A p.640
. . . . . . g.669622
AAAGATGATGATATCAGCAGACTCTTGAAATCTCTACCAAACTGGATGAATATGGCTCAA c.1980
K D D D I S R L L K S L P N W M N M A Q p.660
. . . . | 14. . g.689834
CCCAAACAGCTGAGGCCAAAAAGAGAGGAGGAAGAAGATTTCATAAG | GGCAGCTTTTGGC c.2040
P K Q L R P K R E E E E D F I R | A A F G p.680
. . . . . . g.689894
AAGGAGTCTGAAGTTCTTATTGGGAACCTGGGTGATAAATTAATCCCTCCACAAGACATC c.2100
K E S E V L I G N L G D K L I P P Q D I p.700
. . . . . . g.689954
CTTCGTGACGTCAGTGACCTCAAAGCCTTGGCCAACATGCATGAAAGCCTGGAATGGTTG c.2160
L R D V S D L K A L A N M H E S L E W L p.720
. . . . | 15 . . g.749436
GCAAGTCGAACAAAGTCAGCTTTCTCCAATCTTTCTACATCCCAGA | TGCTTTCTCCTGCT c.2220
A S R T K S A F S N L S T S Q M | L S P A p.740
. . . . . . g.749496
CAAGACAGCCACACGAACACGGATCTCCCCCCAGTGTCAGAGCAGATCATGCAGACTCTC c.2280
Q D S H T N T D L P P V S E Q I M Q T L p.760
. . . . . . g.749556
AGTGAACTTGCCAAATCGTTCCAGGATATGGCTGACCGCTGCTTGCTTGTCTTACATCTG c.2340
S E L A K S F Q D M A D R C L L V L H L p.780
| 16 . . . . . g.756894
GAAGTGAG | GGTTCACTGTTTCCACTATCTTATCCCTCTTGCAAAGGAGGGGAACTATGCC c.2400
E V R | V H C F H Y L I P L A K E G N Y A p.800
. . . . . . g.756954
ATTGTGGCTAATGTGGAAAGTATGGATTATGACCCCCTGGTGGTCAAGCTCAACAAAGAT c.2460
I V A N V E S M D Y D P L V V K L N K D p.820
. . . . . . g.757014
ATCAGCGCCATTGAAGAGGCCATGAGCGCCAGCCTTCAGCAGCACAAGTTCCAGTATATC c.2520
I S A I E E A M S A S L Q Q H K F Q Y I p.840
| 17. . . . . . g.759659
TTCGAAG | GCCTGGGCCACCTGATCTCCTGCATCCTCATTAATGGTGCCCAGTACTTCAGG c.2580
F E G | L G H L I S C I L I N G A Q Y F R p.860
. . . . . . g.759719
CGCATCAGTGAGTCTGGCATCAAGAAAATGTGTAGGAACATTTTTGTTCTTCAGCAGAAT c.2640
R I S E S G I K K M C R N I F V L Q Q N p.880
. . . . | 18. . g.816234
TTGACCAACATCACCATGTCGCGGGAGGCAGACCTGGACTTTGCAAG | GCAGTACTACGAG c.2700
L T N I T M S R E A D L D F A R | Q Y Y E p.900
. . . . . . g.816294
ATGCTTTACAACACAGCTGACGAGCTCCTGAACCTGGTGGTGGACCAGGGTGTGAAGTAC c.2760
M L Y N T A D E L L N L V V D Q G V K Y p.920
. . . . . . g.816354
ACGGAGCTGGAGTACATCCACGCTCTGACCCTGCTGCACCGCAGCCAGACTGGGGTGGGG c.2820
T E L E Y I H A L T L L H R S Q T G V G p.940
. . . . . . g.816414
GAACTGACCACCCAGAACACGAGGCTGCAGAGGCTCAAAGAGATCATCTGCGAGCAGGCT c.2880
E L T T Q N T R L Q R L K E I I C E Q A p.960
. . . . g.816459
GCCATCAAGCAAGCCACCAAGGACAAGAAGATAACTACCGTTTAG c.2925
A I K Q A T K D K K I T T V X p.974
. . . . . . g.816519
cagggcgtactgcggttggtgacgggggtcccctcagtcacactcacttttttccttggt c.*60
. . . . . . g.816579
atgttattgagtatattctgagcttagttttctctacagtgatactttagtggagaggag c.*120
. . . . . . g.816639
gtgtaaggattctttctctctggttttggcttttcatataaatgctaaaggaaggcgaca c.*180
. . . . . . g.816699
gtacagagtgttttggttgaacaactactttaatgcagtcaaatctaacgggactagggt c.*240
. . . . . . g.816759
gggatagggaggaaggtggtatcaaattgttggactctgaaaaacaagtggatggattac c.*300
. . . . . . g.816819
taatatttgatttattactcaatatatatataattccagccttggaaagtaggaaagtag c.*360
. . . . . . g.816879
gctgctacctaacttttagtcccttccaaaaccatttagtagggttctattacataaaca c.*420
. . . . . . g.816939
gtagggtttttcctctcctgaccttatccgtttacagttcaatgaaataagtgtatgtgc c.*480
. . . . . . g.816999
attgctgtctgtctctattgccaaaatcaaataaatggcttctcagctgctgtttacaac c.*540
. . . . . . g.817059
aaacttccctaaccaaaacagaacctctaatttagggctaggaatagaagtcttttgatc c.*600
. . . . . . g.817119
ccagtccctgggacagttttgtatgctgtatcttgtacacaggttgtaggttggtttatt c.*660
. . . . . . g.817179
gccattttgttttatttctgctgtataaaaaccaagagccagacaattagacaactatgg c.*720
. . . . . . g.817239
aggaatgaaaggcaattcaaacatctgcttgattcccgccccgccacccctaatttctga c.*780
. . . . . . g.817299
gagaataatggttagagaacattgcatctcacttgaaacatcctttgggggtaaatgatt c.*840
. . . . . . g.817359
cttaggtgctcacttggtctgagctcagctgaatgcagggaagatgggacagagtgacat c.*900
. . . . . . g.817419
ttctcctctgtgcggcctccagctgagcctgtctctgaattgttccctcccccgcaatgt c.*960
. . . . . . g.817479
gggcacttaccatgttcctggcacactggacctcaccatgtcccccggtcaccagtcctc c.*1020
. . . . . . g.817539
ttgctgcccatggttcataggtcatagaaggcagcaatgcactgactgggccacatcttg c.*1080
. . . . . . g.817599
aaaactcgtggaaagggaaaggggaggagatgggactttgaccacacacagtgatgcctc c.*1140
. . . . . . g.817659
acaccctgaaggtgggggattttgtacctgtttgtacaactttggtcttgatgggaaaaa c.*1200
. . . g.817692
tggagaattaaaaagtgttttgagaagcttaaa c.*1233
(downstream sequence)
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