(used for variant description)
(last modified November 13, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_020184.3 in the CNNM4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016608.1, covering CNNM4 transcript NM_020184.3.
(upstream sequence)
. . . g.5038
agttggctcggcggcagcggagcggccggagctgcggt c.-61
. . . . . . g.5098
gcggaccggggccgcgcggcgtggcgcggggagcggcggcggcggcagagccagagcaac c.-1
. . . . . . g.5158
ATGGCGCCGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCGGGCGCCTCCTC c.60
M A P V G G G G R P V G G P A R G R L L p.20
. . . . . . g.5218
CTGGCGGCGCCGGTGCTGCTGGTGCTGCTGTGGGCGCTGGGGGCCCGGGGCCAGGGCAGC c.120
L A A P V L L V L L W A L G A R G Q G S p.40
. . . . . . g.5278
CCCCAGCAGGGCACGATCGTGGGCATGAGGCTGGCGAGCTGCAACAAGTCGTGTGGGACG c.180
P Q Q G T I V G M R L A S C N K S C G T p.60
. . . . . . g.5338
AACCCGGATGGCATCATCTTCGTGTCCGAGGGCAGCACCGTGAACCTGAGGCTGTACGGC c.240
N P D G I I F V S E G S T V N L R L Y G p.80
. . . . . . g.5398
TACAGCCTGGGCAACATCTCCAGCAACCTGATCTCCTTCACCGAGGTGGACGATGCCGAG c.300
Y S L G N I S S N L I S F T E V D D A E p.100
. . . . . . g.5458
ACCCTCCACAAGTCCACCAGCTGCCTCGAGCTCACCAAGGACCTGGTCGTCCAGCAGCTG c.360
T L H K S T S C L E L T K D L V V Q Q L p.120
. . . . . . g.5518
GTCAACGTGAGCCGCGGGAACACGTCCGGCGTGCTGGTGGTGCTCACCAAGTTCCTCCGG c.420
V N V S R G N T S G V L V V L T K F L R p.140
. . . . . . g.5578
AGGAGCGAGAGCATGAAGCTGTATGCACTGTGCACCCGGGCCCAGCCCGACGGGCCCTGG c.480
R S E S M K L Y A L C T R A Q P D G P W p.160
. . . . . . g.5638
CTGAAGTGGACGGACAAGGACTCACTGCTCTTCATGGTGGAGGAGCCTGGGAGGTTCCTG c.540
L K W T D K D S L L F M V E E P G R F L p.180
. . . . . . g.5698
CCTCTCTGGCTGCACATTCTCCTAATTACGGTGCTGCTGGTGCTGTCGGGCATATTTTCT c.600
P L W L H I L L I T V L L V L S G I F S p.200
. . . . . . g.5758
GGCCTCAACCTCGGGCTTATGGCCCTGGACCCCATGGAGCTGCGCATCGTGCAGAACTGT c.660
G L N L G L M A L D P M E L R I V Q N C p.220
. . . . . . g.5818
GGCACCGAGAAGGAGAGGCGCTATGCCCGCAAGATTGAGCCCATCCGGCGCAAGGGCAAC c.720
G T E K E R R Y A R K I E P I R R K G N p.240
. . . . . . g.5878
TACCTTCTCTGCTCGTTGCTCCTAGGGAACGTGCTGGTCAACACCTCCCTCACAATCCTT c.780
Y L L C S L L L G N V L V N T S L T I L p.260
. . . . . . g.5938
CTAGACAACCTCATCGGGTCCGGCCTCATGGCGGTGGCCTCCTCCACCATTGGCATTGTC c.840
L D N L I G S G L M A V A S S T I G I V p.280
. . . . . . g.5998
ATCTTTGGGGAGATCCTACCTCAGGCCCTGTGCTCCCGACATGGGCTGGCTGTGGGTGCC c.900
I F G E I L P Q A L C S R H G L A V G A p.300
. . . . . . g.6058
AACACCATCCTTCTCACCAAATTCTTTATGCTACTCACCTTCCCCCTCAGTTTTCCCATT c.960
N T I L L T K F F M L L T F P L S F P I p.320
. . . . . . g.6118
AGCAAGCTCCTGGACTTTTTTCTGGGCCAGGAGATTCGCACTGTTTACAACCGGGAGAAG c.1020
S K L L D F F L G Q E I R T V Y N R E K p.340
. . . . . . g.6178
CTGATGGAGATGTTGAAGGTGACGGAGCCCTATAATGACCTCGTGAAAGAGGAGCTCAAT c.1080
L M E M L K V T E P Y N D L V K E E L N p.360
. . . . . . g.6238
ATGATCCAGGGTGCCCTGGAACTACGGACCAAAACTGTAGAGGATATCATGACCCAGCTC c.1140
M I Q G A L E L R T K T V E D I M T Q L p.380
. . . . . . g.6298
CAGGACTGCTTCATGATCCGCAGCGATGCCATCCTGGACTTCAACACCATGTCGGAGATA c.1200
Q D C F M I R S D A I L D F N T M S E I p.400
. . . . . . g.6358
ATGGAAAGCGGCTATACTCGCATCCCGGTGTTCGAAGACGAGCAGTCCAATATTGTAGAT c.1260
M E S G Y T R I P V F E D E Q S N I V D p.420
. . . . . . g.6418
ATTCTCTACGTCAAAGACTTGGCCTTTGTGGACCCCGATGACTGCACCCCCCTCAAGACT c.1320
I L Y V K D L A F V D P D D C T P L K T p.440
. . . . . . g.6478
ATCACTCGCTTCTATAACCACCCGGTGCACTTTGTCTTCCATGACACCAAGTTGGATGCC c.1380
I T R F Y N H P V H F V F H D T K L D A p.460
. . | 02 . . . . g.41148
ATGCTGGAGGAGTTCAAGAAGG | GGAAGTCCCACCTGGCCATCGTGCAGAAGGTAAACAAC c.1440
M L E E F K K G | K S H L A I V Q K V N N p.480
. . . . . . g.41208
GAGGGTGAGGGTGACCCCTTCTACGAGGTCCTGGGCCTGGTCACCCTGGAGGACGTGATC c.1500
E G E G D P F Y E V L G L V T L E D V I p.500
. . . . | 03 . . g.41625
GAGGAGATCATCAAGTCGGAGATCCTGGACGAGTCCGACATGTACA | CTGACAACCGAAGC c.1560
E E I I K S E I L D E S D M Y T | D N R S p.520
. . . . . . g.41685
CGGAAGCGGGTGTCTGAGAAGAACAAGCGTGACTTCTCTGCCTTCAAGGATGCGGACAAT c.1620
R K R V S E K N K R D F S A F K D A D N p.540
. . . . . . g.41745
GAGCTCAAAGTGAAAATCTCCCCGCAGCTCCTCCTGGCCGCTCATCGCTTCCTAGCCACA c.1680
E L K V K I S P Q L L L A A H R F L A T p.560
| 04 . . . . . . g.43214
G | AGGTCTCTCAGTTTAGCCCCTCCCTGATATCAGAGAAGATCCTGCTGCGGCTACTCAAG c.1740
E | V S Q F S P S L I S E K I L L R L L K p.580
. . . . . . g.43274
TACCCAGATGTCATTCAGGAACTCAAGTTTGACGAGCACAATAAGTACTACGCCCGCCAT c.1800
Y P D V I Q E L K F D E H N K Y Y A R H p.600
. . . . . | 05 . g.43659
TACCTGTACACCCGAAATAAGCCGGCCGACTACTTCATCCTCATCCTGCAG | GGGAAGGTG c.1860
Y L Y T R N K P A D Y F I L I L Q | G K V p.620
. . . . . . g.43719
GAGGTGGAGGCAGGGAAGGAGAACATGAAGTTTGAGACGGGCGCCTTCTCCTACTATGGG c.1920
E V E A G K E N M K F E T G A F S Y Y G p.640
. . | 06 . . . g.52691
ACTATGGCCCTGACCTCGGTCCCCTCCG | ACCGTTCCCCAGCACACCCCACCCCACTCAGC c.1980
T M A L T S V P S D | R S P A H P T P L S p.660
. . . . . . g.52751
CGCTCAGCCTCCCTCAGTTACCCAGACCGCACAGACGTCTCAACTGCAGCAACCTTGGCA c.2040
R S A S L S Y P D R T D V S T A A T L A p.680
. . . . . . g.52811
GGCAGCAGCAACCAGTTTGGCAGCTCTGTCCTGGGCCAGTACATCTCTGACTTCAGCGTC c.2100
G S S N Q F G S S V L G Q Y I S D F S V p.700
. . . | 07 . . . g.53448
CGGGCACTCGTGGACTTGCAGTACATCAAG | ATCACTCGGCAGCAGTACCAGAACGGGCTG c.2160
R A L V D L Q Y I K | I T R Q Q Y Q N G L p.720
. . . . . . g.53508
CTGGCTTCTCGCATGGAGAACAGCCCTCAGTTTCCCATAGACGGGTGCACCACCCACATG c.2220
L A S R M E N S P Q F P I D G C T T H M p.740
. . . . . . g.53568
GAGAACTTGGCCGAGAAGTCTGAGCTGCCTGTGGTGGACGAGACCACAACTCTTCTCAAC c.2280
E N L A E K S E L P V V D E T T T L L N p.760
. . . . g.53616
GAGCGTAACTCCTTGCTGCACAAAGCCTCCCACGAGAATGCCATCTGA c.2328
E R N S L L H K A S H E N A I X p.775
. . . . . . g.53676
caggagggcccggggccccctgcccaccctgcgggggcctccccagtgggcccacatgaa c.*60
. . . . . . g.53736
gagagggaacctgttagtccagaaaggatacggatagatagcctgtctgactgaacagcc c.*120
. . . . . . g.53796
agatggcccccagcctatgggggatctggcctctgccagggacctctgagtagctctgag c.*180
. . . . . . g.53856
gtggcactgtccagccctggatagggggggcagtgggccagctaccgtaagcaaaggctg c.*240
. . . . . . g.53916
ttttttactgagagaatttctaaagtaggctcatcacttttttttaaatatcattttggg c.*300
. . . . . . g.53976
aagggaagacagggttaaggaactttatttaaaaaaaaaatatttttttcctaaaaacta c.*360
. . . . . . g.54036
taaaagaggaagggtttcttgtcccgggaagcaacggacataatctgttcccagccatgg c.*420
. . . . . . g.54096
ccttccagcttgtgtccctgattcagggagctctcccttcctcctcctcctcctcctccg c.*480
. . . . . . g.54156
gaggtgggatcccagagcctgccagtggaggcttatctgttgggaggaagacagctcttc c.*540
. . . . . . g.54216
acagaagcaaagaacaaaatggcatggagatcagctgcctgagcacctgcgctgtagctt c.*600
. . . . . . g.54276
atctgacaacgctgaggccacgagctcctgggtagctgtgatcagggacatgataatctg c.*660
. . . . . . g.54336
agctatgcagaggagcacatctgttgtcaactgctgtacccagaaatctagaactctgcc c.*720
. . . . . . g.54396
gacagcctctcctggtgagtcgggactcagctgaggacacatccccaccctgcctcccat c.*780
. . . . . . g.54456
ctggccctttggacaactggccctttgtgacagggctgactcaagtgttaggcagggtct c.*840
. . . . . . g.54516
caggcctttgattgctcacccctgctccccaggccctgccctcacttttaccaaaggttc c.*900
. . . . . . g.54576
tccctcggcgggagggcatctgtgttggaggtgatttgtctgggttcttccttttggttc c.*960
. . . . . . g.54636
cagaaggaactgtcagtcatcagcatctgcgttgttagcagtcagtaccacccccgcccc c.*1020
. . . . . . g.54696
acaatgacagtcaaggctgacttgttgactgaagcctttttcccagaccccttatttcga c.*1080
. . . . . . g.54756
atccccaagcttcagtccctcttgggggtggagacaagaggacatgtgggaagccacgga c.*1140
. . . . . . g.54816
agcaggttctttatgtcctctcctctgtggctggcaaggctcacctggccttatccaccc c.*1200
. . . . . . g.54876
acttatggaacctcaggagaggagggctcctcctaaaggcatgcagcttgcagcccctct c.*1260
. . . . . . g.54936
ttctcacacgtgtgatcctagcgtgagaggtcatcctgcccttgctgaagttagtagtac c.*1320
. . . . . . g.54996
tgtactaagagctctgccctcatgtgaattcctgccctggcgcctcttccctggggctga c.*1380
. . . . . . g.55056
atcaggccctgctgcaaaactccaggcttcccagggttggggaggctgtgggaccaaggt c.*1440
. . . . . . g.55116
ccatgttggtccttccactgggtgcagcaggagctgggtcccgagagcctggcaggtgaa c.*1500
. . . . . . g.55176
actctgcaggccttccgcctgattattatttattcactcctttcctcaccccaagtgccc c.*1560
. . . . . . g.55236
tgctctccaggtgcctagagtatcctaactcttaggaccagggattgtcttgcaccaagt c.*1620
. . . . . . g.55296
atgcctacccctggccagtctgaggtctcctagccatagaactgactcctggaagcctgg c.*1680
. . . . . . g.55356
agagaaggtggtgacacccatgggttctcaactgtaaggaaaaaagacaccagacttttg c.*1740
. . . . . . g.55416
ttccctagtgggggaaagcccttagtcttgtacaggagcagcttgctcccaagtcctttt c.*1800
. . . . . . g.55476
ggaagctggcagagctatattcctgacagccctgactgccaggtagagcaaaagacattg c.*1860
. . . . . . g.55536
gtgggggtatgtgaagcaaaaggggcaggtgcacacacctccacagtgacctctgtgcac c.*1920
. . . . . . g.55596
acggttaccaccaactggctggccctcctcctcttccctggcccattgatcatcccttct c.*1980
. . . . . . g.55656
cacagagggtcatcattatttccaaatattgtttgtctgatgacttcctcttcccagtgc c.*2040
. . . . . . g.55716
aatttttcccttcctatttcaacctctggttcctgggatgagccataccctggaactggc c.*2100
. . . . . . g.55776
ccacccactgtgtcttccacgtaagggagacctttgcaaagggcatccaaatgggtaggc c.*2160
. . . . . . g.55836
aggtgacagccgccgtatttattttgcataatattttaatttgtatatttttgtgattta c.*2220
. . . . . . g.55896
ttttggcgttatgagtttgactctcggggagttttgttgttatgactcttgtgtcttttg c.*2280
. . . . . . g.55956
tcacaaaacaatgatatttgctaaacgatatatggaatttatttttgattggtaataaaa c.*2340
. . . g.55990
aatcaaatatgtataaatcctggtgaatctacaa c.*2374
(downstream sequence)
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