Canonical Allele Identifier: CA546015078
Gene: MYLK HGNC NCBI
MYLK-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123614123_123614134del , CM000665.2:g.123614123_123614134del GRCh38
NC_000003.11:g.123332970_123332981del , CM000665.1:g.123332970_123332981del GRCh37
NC_000003.10:g.124815660_124815671del NCBI36
NG_029111.1:g.275173_275184del

Transcript Alleles

HGVS Amino-acid Change
NM_053025.4:c.5720_5731del (MYLK) MANE Select NP_444253.3:p.Gly1907_Glu1910del
ENST00000360304.8:c.5720_5731del (MYLK) MANE Select ENSP00000353452.3:p.Gly1907_Glu1910del
NM_001321309.1:c.5192_5203del (MYLK) NP_001308238.1:p.Gly1731_Glu1734del
NM_001321309.2:c.5192_5203del (MYLK) NP_001308238.1:p.Gly1731_Glu1734del
NM_053025.3:c.5720_5731del (MYLK) NP_444253.3:p.Gly1907_Glu1910del
NM_053026.3:c.5513_5524del (MYLK) NP_444254.3:p.Gly1838_Glu1841del
NM_053026.4:c.5513_5524del (MYLK) NP_444254.3:p.Gly1838_Glu1841del
NM_053027.3:c.5567_5578del (MYLK) NP_444255.3:p.Gly1856_Glu1859del
NM_053027.4:c.5567_5578del (MYLK) NP_444255.3:p.Gly1856_Glu1859del
NM_053028.3:c.5360_5371del (MYLK) NP_444256.3:p.Gly1787_Glu1790del
NM_053028.4:c.5360_5371del (MYLK) NP_444256.3:p.Gly1787_Glu1790del
NM_053031.2:c.437_448del (MYLK) NP_444259.1:p.Gly146_Glu149del
NM_053031.3:c.437_448del (MYLK) NP_444259.1:p.Gly146_Glu149del
NM_053031.4:c.437_448del (MYLK) NP_444259.1:p.Gly146_Glu149del
NM_053032.2:c.440_451del (MYLK) NP_444260.1:p.Gly147_Glu150del
NM_053032.3:c.440_451del (MYLK) NP_444260.1:p.Gly147_Glu150del
NM_053032.4:c.440_451del (MYLK) NP_444260.1:p.Gly147_Glu150del
NR_038266.2:n.290-15371_290-15360del (MYLK-AS1)
NR_121654.1:n.197-15371_197-15360del (MYLK-AS1)
ENST00000346322.10:c.5360_5371del (MYLK) ENSP00000320622.6:p.Gly1787_Glu1790del
ENST00000346322.9:c.5513_5524del (MYLK) ENSP00000320622.5:p.Gly1838_Glu1841del
ENST00000354792.9:c.5513_5524del (MYLK) ENSP00000346846.6:p.Gly1838_Glu1841del
ENST00000359169.5:c.5567_5578del (MYLK) ENSP00000352088.1:p.Gly1856_Glu1859del
ENST00000360304.7:c.5720_5731del (MYLK) ENSP00000353452.3:p.Gly1907_Glu1910del
ENST00000360772.7:c.5567_5578del (MYLK) ENSP00000354004.3:p.Gly1856_Glu1859del
ENST00000418370.6:c.440_451del (MYLK) ENSP00000428967.1:p.Gly147_Glu150del
ENST00000464489.5:c.*5299_*5310del (MYLK) ENSP00000417798.1:n.*5299_*5310del
ENST00000475616.5:c.5720_5731del (MYLK) ENSP00000418335.1:p.Gly1907_Glu1910del
ENST00000508240.2:c.2120_2131del (MYLK) ENSP00000422984.2:p.Gly707_Glu710del
ENST00000578202.1:c.437_448del (MYLK) ENSP00000463691.1:p.Gly146_Glu149del
ENST00000578202.2:c.*225_*236del (MYLK) ENSP00000463691.2:n.*225_*236del
ENST00000583087.5:c.440_451del (MYLK) ENSP00000462118.1:p.Gly147_Glu150del
ENST00000583087.6:c.440_451del (MYLK) ENSP00000462118.1:p.Gly147_Glu150del
ENST00000685021.1:c.2954_2965del (MYLK) ENSP00000508447.1:p.Gly985_Glu988del
ENST00000685170.1:n.933_944del (MYLK)
ENST00000685259.1:c.3239_3250del (MYLK)
ENST00000685744.1:c.437_448del (MYLK) ENSP00000510047.1:p.Gly146_Glu149del
ENST00000685907.1:n.3501_3512del (MYLK)
ENST00000685953.1:c.2117_2128del (MYLK) ENSP00000510593.1:p.Gly706_Glu709del
ENST00000686039.1:c.3104_3115del (MYLK)
ENST00000686245.1:c.2837_2848del (MYLK) ENSP00000509313.1:p.Gly946_Glu949del
ENST00000686281.1:n.1012_1023del (MYLK)
ENST00000686406.1:c.5717_5728del (MYLK) ENSP00000509044.1:p.Gly1906_Glu1909del
ENST00000686458.1:n.2222_2233del (MYLK)
ENST00000686761.1:c.5720_5731del (MYLK) ENSP00000508758.1:p.Gly1907_Glu1910del
ENST00000687375.1:c.437_448del (MYLK) ENSP00000509867.1:p.Gly146_Glu149del
ENST00000687434.1:c.*1936_*1947del (MYLK) ENSP00000509751.1:n.*1936_*1947del
ENST00000687709.1:n.3775_3786del (MYLK)
ENST00000687848.1:c.5750_5761del (MYLK) ENSP00000508761.1:p.Gly1917_Glu1920del
ENST00000688024.1:c.2951_2962del (MYLK) ENSP00000509803.1:p.Gly984_Glu987del
ENST00000688223.1:c.2750_2761del (MYLK) ENSP00000508935.1:p.Gly917_Glu920del
ENST00000689446.1:n.922_933del (MYLK)
ENST00000689868.1:n.5980_5991del (MYLK)
ENST00000689918.1:n.1795_1806del (MYLK)
ENST00000690167.1:n.3388_3399del (MYLK)
ENST00000690457.1:c.4958_4969del (MYLK) ENSP00000508777.1:p.Gly1653_Glu1656del
ENST00000690656.1:n.425_436del (MYLK)
ENST00000691367.1:n.416_427del (MYLK)
ENST00000691933.1:c.3344_3355del (MYLK)
ENST00000692356.1:c.89-18_89-7del (MYLK) ENSP00000509805.1:n.89-18_89-7del
ENST00000692507.1:n.1524_1535del (MYLK)
ENST00000693689.1:c.5513_5524del (MYLK) ENSP00000510503.1:p.Gly1838_Glu1841del
XM_011512860.1:c.5717_5728del (MYLK) XP_011511162.1:p.Gly1906_Glu1909del
XM_011512860.3:c.5747_5758del (MYLK) XP_011511162.2:p.Gly1916_Glu1919del
XM_011512861.1:c.5516_5527del (MYLK) XP_011511163.1:p.Gly1839_Glu1842del
XM_011512861.3:c.5546_5557del (MYLK) XP_011511163.2:p.Gly1849_Glu1852del
XM_011512862.1:c.5192_5203del (MYLK) XP_011511164.1:p.Gly1731_Glu1734del
XM_017006469.2:c.2951_2962del (MYLK) XP_016861958.1:p.Gly984_Glu987del
XM_017006470.2:c.2117_2128del (MYLK) XP_016861959.1:p.Gly706_Glu709del
XM_017006471.2:c.2120_2131del (MYLK) XP_016861960.1:p.Gly707_Glu710del
XM_017006472.2:c.440_451del (MYLK) XP_016861961.1:p.Gly147_Glu150del
XM_017006473.1:c.437_448del (MYLK) XP_016861962.1:p.Gly146_Glu149del
XM_024453532.1:c.5750_5761del (MYLK) XP_024309300.1:p.Gly1917_Glu1920del
XM_024453533.1:c.5720_5731del (MYLK) XP_024309301.1:p.Gly1907_Glu1910del
XM_024453534.1:c.5543_5554del (MYLK) XP_024309302.1:p.Gly1848_Glu1851del
XM_024453535.1:c.5513_5524del (MYLK) XP_024309303.1:p.Gly1838_Glu1841del
XM_024453536.1:c.5720_5731del (MYLK) XP_024309304.1:p.Gly1907_Glu1910del
XM_024453537.1:c.5720_5731del (MYLK) XP_024309305.1:p.Gly1907_Glu1910del