Canonical Allele Identifier: CA16611214
Gene: MYLK HGNC NCBI

Linked Data

ClinVar Variation Id: 409685
ClinVar RCV Id: RCV000462848
dbSNP Id: rs1060502531

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123647350_123647354del , CM000665.2:g.123647350_123647354del GRCh38
NC_000003.11:g.123366197_123366201del , CM000665.1:g.123366197_123366201del GRCh37
NC_000003.10:g.124848887_124848891del NCBI36
NG_029111.1:g.241949_241953del

Transcript Alleles

HGVS Amino-acid change
ENST00000346322.10:c.4282_4286del ENSP00000320622.6:p.Ala1428PhefsTer13
ENST00000508240.2:c.889_893del ENSP00000422984.2:p.Ala297PhefsTer13
ENST00000513111.2:n.619_623del
ENST00000684879.1:n.2121_2125del
ENST00000685021.1:c.1723_1727del ENSP00000508447.1:p.Ala575PhefsTer13
ENST00000685259.1:c.2008_2012del
ENST00000685907.1:n.2270_2274del
ENST00000685953.1:c.889_893del ENSP00000510593.1:p.Ala297PhefsTer13
ENST00000686039.1:c.1873_1877del
ENST00000686245.1:c.1606_1610del ENSP00000509313.1:p.Ala536PhefsTer13
ENST00000686406.1:c.4489_4493del ENSP00000509044.1:p.Ala1497PhefsTer13
ENST00000686458.1:n.991_995del
ENST00000686761.1:c.4489_4493del ENSP00000508758.1:p.Ala1497PhefsTer13
ENST00000686822.1:n.4383_4387del
ENST00000687434.1:c.*705_*709del ENSP00000509751.1:n.*705_*709del
ENST00000687709.1:n.2544_2548del
ENST00000687848.1:c.4519_4523del ENSP00000508761.1:p.Ala1507PhefsTer13
ENST00000688024.1:c.1723_1727del ENSP00000509803.1:p.Ala575PhefsTer13
ENST00000688223.1:c.1649+1617_1649+1621del ENSP00000508935.1:n.1649+1617_1649+1621de...
ENST00000689868.1:n.2217_2221del
ENST00000689918.1:n.564_568del
ENST00000690086.1:n.590_594del
ENST00000690167.1:n.2160_2164del
ENST00000690457.1:c.3727_3731del ENSP00000508777.1:p.Ala1243PhefsTer13
ENST00000690534.1:n.1010_1014del
ENST00000691933.1:c.2113_2117del
ENST00000692352.1:c.2027_2031del
ENST00000693689.1:c.4282_4286del ENSP00000510503.1:p.Ala1428PhefsTer13
ENST00000360304.8:c.4489_4493del MANE Select ENSP00000353452.3:p.Ala1497PhefsTer13
ENST00000346322.9:c.4282_4286del ENSP00000320622.5:p.Ala1428PhefsTer13
ENST00000354792.9:c.4282_4286del ENSP00000346846.6:p.Ala1428PhefsTer13
ENST00000359169.5:c.4489_4493del ENSP00000352088.1:p.Ala1497PhefsTer13
ENST00000360304.7:c.4489_4493del ENSP00000353452.3:p.Ala1497PhefsTer13
ENST00000360772.7:c.4489_4493del ENSP00000354004.3:p.Ala1497PhefsTer13
ENST00000464489.5:c.*4068_*4072del ENSP00000417798.1:n.*4068_*4072del
ENST00000475616.5:c.4489_4493del ENSP00000418335.1:p.Ala1497PhefsTer13
ENST00000513111.1:n.201_205del
ENST00000514895.5:n.94+1617_94+1621del
NM_053025.3:c.4489_4493del NP_444253.3:p.Ala1497PhefsTer13
NM_053026.3:c.4282_4286del NP_444254.3:p.Ala1428PhefsTer13
NM_053027.3:c.4489_4493del NP_444255.3:p.Ala1497PhefsTer13
NM_053028.3:c.4282_4286del NP_444256.3:p.Ala1428PhefsTer13
XM_011512860.1:c.4489_4493del XP_011511162.1:p.Ala1497PhefsTer13
XM_011512861.1:c.4415+1617_4415+1621del XP_011511163.1:n.4415+1617_4415+1621del
XM_011512862.1:c.3961_3965del XP_011511164.1:p.Ala1321PhefsTer13
NM_001321309.1:c.3961_3965del NP_001308238.1:p.Ala1321PhefsTer13
XM_011512860.3:c.4519_4523del XP_011511162.2:p.Ala1507PhefsTer13
XM_011512861.3:c.4445+1617_4445+1621del XP_011511163.2:n.4445+1617_4445+1621del
XM_017006469.2:c.1723_1727del XP_016861958.1:p.Ala575PhefsTer13
XM_017006470.2:c.889_893del XP_016861959.1:p.Ala297PhefsTer13
XM_017006471.2:c.889_893del XP_016861960.1:p.Ala297PhefsTer13
XM_024453532.1:c.4519_4523del XP_024309300.1:p.Ala1507PhefsTer13
XM_024453533.1:c.4489_4493del XP_024309301.1:p.Ala1497PhefsTer13
XM_024453534.1:c.4312_4316del XP_024309302.1:p.Ala1438PhefsTer13
XM_024453535.1:c.4282_4286del XP_024309303.1:p.Ala1428PhefsTer13
XM_024453536.1:c.4489_4493del XP_024309304.1:p.Ala1497PhefsTer13
XM_024453537.1:c.4489_4493del XP_024309305.1:p.Ala1497PhefsTer13
NM_001321309.2:c.3961_3965del NP_001308238.1:p.Ala1321PhefsTer13
NM_053025.4:c.4489_4493del MANE Select NP_444253.3:p.Ala1497PhefsTer13
NM_053026.4:c.4282_4286del NP_444254.3:p.Ala1428PhefsTer13
NM_053027.4:c.4489_4493del NP_444255.3:p.Ala1497PhefsTer13
NM_053028.4:c.4282_4286del NP_444256.3:p.Ala1428PhefsTer13