Canonical Allele Identifier: CA2667314673

Gene: MYLK

Linked Data

• gnomAD v4: 3-123647043-T-TGCACAGTGCTGGCCCTGAGCCTCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123647049_123647050insTGCTGGCCCTGAGCCTCTGAGCACAG , CM000665.2:g.123647049_123647050insTGCTGGCCCTGAGCCTCTGAGCACAG	GRCh38
NC_000003.11:g.123365896_123365897insTGCTGGCCCTGAGCCTCTGAGCACAG , CM000665.1:g.123365896_123365897insTGCTGGCCCTGAGCCTCTGAGCACAG	GRCh37
NC_000003.10:g.124848586_124848587insTGCTGGCCCTGAGCCTCTGAGCACAG	NCBI36
NG_029111.1:g.242259_242260insTCAGAGGCTCAGGGCCAGCACTGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000320622.6:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000508240.2:c.1019+180_1019+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000422984.2:n.1019+180_1019+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000684879.1:n.2251+180_2251+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000685021.1:c.1853+180_1853+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000508447.1:n.1853+180_1853+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000685259.1:c.2138+180_2138+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000685907.1:n.2400+180_2400+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000685953.1:c.1019+180_1019+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000510593.1:n.1019+180_1019+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000686039.1:c.2003+180_2003+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000686245.1:c.1736+180_1736+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000509313.1:n.1736+180_1736+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000686406.1:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000509044.1:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000686458.1:n.1121+180_1121+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000686761.1:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000508758.1:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000686822.1:n.4513+180_4513+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000687434.1:c.*835+180_*835+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000509751.1:n.*835+180_*835+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000687709.1:n.2674+180_2674+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000687848.1:c.4649+180_4649+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000508761.1:n.4649+180_4649+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000688024.1:c.1853+180_1853+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000509803.1:n.1853+180_1853+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000688223.1:c.1649+1927_1649+1928insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000508935.1:n.1649+1927_1649+1928insTCAGAGGCTCAGGGCCAGC...
ENST00000689868.1:n.2347+180_2347+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000689918.1:n.694+180_694+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000690086.1:n.720+180_720+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000690167.1:n.2290+180_2290+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000690457.1:c.3857+180_3857+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000508777.1:n.3857+180_3857+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000690534.1:n.1140+180_1140+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000691933.1:c.2243+180_2243+181insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000692352.1:c.2337_2338insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000693689.1:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000510503.1:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000360304.8:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC MANE Select	ENSP00000353452.3:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000346322.9:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000320622.5:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000354792.9:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000346846.6:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000359169.5:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000352088.1:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000360304.7:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000353452.3:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000360772.7:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000354004.3:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000464489.5:c.*4198+180_*4198+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000417798.1:n.*4198+180_*4198+181insTCAGAGGCTCAGGGCCAGC...
ENST00000475616.5:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	ENSP00000418335.1:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCAC...
ENST00000513111.1:n.511_512insTCAGAGGCTCAGGGCCAGCACTGTGC
ENST00000514895.5:n.94+1927_94+1928insTCAGAGGCTCAGGGCCAGCACTGTGC
NM_053025.3:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_444253.3:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC
NM_053026.3:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_444254.3:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC
NM_053027.3:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_444255.3:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC
NM_053028.3:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_444256.3:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC
XM_011512860.1:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_011511162.1:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_011512861.1:c.4415+1927_4415+1928insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_011511163.1:n.4415+1927_4415+1928insTCAGAGGCTCAGGGCCAGCACT...
XM_011512862.1:c.4091+180_4091+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_011511164.1:n.4091+180_4091+181insTCAGAGGCTCAGGGCCAGCACTGT...
NM_001321309.1:c.4091+180_4091+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_001308238.1:n.4091+180_4091+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_011512860.3:c.4649+180_4649+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_011511162.2:n.4649+180_4649+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_011512861.3:c.4445+1927_4445+1928insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_011511163.2:n.4445+1927_4445+1928insTCAGAGGCTCAGGGCCAGCACT...
XM_017006469.2:c.1853+180_1853+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_016861958.1:n.1853+180_1853+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_017006470.2:c.1019+180_1019+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_016861959.1:n.1019+180_1019+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_017006471.2:c.1019+180_1019+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_016861960.1:n.1019+180_1019+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_024453532.1:c.4649+180_4649+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_024309300.1:n.4649+180_4649+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_024453533.1:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_024309301.1:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_024453534.1:c.4442+180_4442+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_024309302.1:n.4442+180_4442+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_024453535.1:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_024309303.1:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_024453536.1:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_024309304.1:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGT...
XM_024453537.1:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	XP_024309305.1:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGT...
NM_001321309.2:c.4091+180_4091+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_001308238.1:n.4091+180_4091+181insTCAGAGGCTCAGGGCCAGCACTGT...
NM_053025.4:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC MANE Select	NP_444253.3:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC
NM_053026.4:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_444254.3:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC
NM_053027.4:c.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_444255.3:n.4619+180_4619+181insTCAGAGGCTCAGGGCCAGCACTGTGC
NM_053028.4:c.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC	NP_444256.3:n.4412+180_4412+181insTCAGAGGCTCAGGGCCAGCACTGTGC