Canonical Allele Identifier: CA2838304101

Gene: MYLK

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123692755_123692757del , CM000665.2:g.123692755_123692757del	GRCh38
NC_000003.11:g.123411602_123411604del , CM000665.1:g.123411602_123411604del	GRCh37
NC_000003.10:g.124894292_124894294del	NCBI36
NG_029111.1:g.196548_196550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346322.10:c.3338_3340del	ENSP00000320622.6:p.Ser1113del
ENST00000504946.6:c.1155_1157del
ENST00000684879.1:n.1177_1179del
ENST00000685021.1:c.779_781del	ENSP00000508447.1:p.Ser260del
ENST00000685259.1:c.1083_1085del
ENST00000685907.1:n.1326_1328del
ENST00000686039.1:c.1083_1085del
ENST00000686245.1:c.682+7265_682+7267del	ENSP00000509313.1:n.682+7265_682+7267del
ENST00000686406.1:c.3545_3547del	ENSP00000509044.1:p.Ser1182del
ENST00000686761.1:c.3545_3547del	ENSP00000508758.1:p.Ser1182del
ENST00000686822.1:n.3439_3441del
ENST00000687709.1:n.810_812del
ENST00000687848.1:c.3575_3577del	ENSP00000508761.1:p.Ser1192del
ENST00000688024.1:c.779_781del	ENSP00000509803.1:p.Ser260del
ENST00000688223.1:c.779_781del	ENSP00000508935.1:p.Ser260del
ENST00000689227.1:c.1218_1220del
ENST00000689868.1:n.1273_1275del
ENST00000690167.1:n.1216_1218del
ENST00000690457.1:c.2783_2785del	ENSP00000508777.1:p.Ser928del
ENST00000691933.1:c.1083_1085del
ENST00000692352.1:c.1083_1085del
ENST00000693689.1:c.3338_3340del	ENSP00000510503.1:p.Ser1113del
ENST00000360304.8:c.3545_3547del MANE Select	ENSP00000353452.3:p.Ser1182del
ENST00000346322.9:c.3338_3340del	ENSP00000320622.5:p.Ser1113del
ENST00000354792.9:c.3338_3340del	ENSP00000346846.6:p.Ser1113del
ENST00000359169.5:c.3545_3547del	ENSP00000352088.1:p.Ser1182del
ENST00000360304.7:c.3545_3547del	ENSP00000353452.3:p.Ser1182del
ENST00000360772.7:c.3545_3547del	ENSP00000354004.3:p.Ser1182del
ENST00000464489.5:c.*3124_*3126del	ENSP00000417798.1:n.*3124_*3126del
ENST00000475616.5:c.3545_3547del	ENSP00000418335.1:p.Ser1182del
ENST00000503644.1:n.214_216del
ENST00000504946.5:n.1103_1105del
ENST00000510775.5:n.263_265del
NM_053025.3:c.3545_3547del	NP_444253.3:p.Ser1182del
NM_053026.3:c.3338_3340del	NP_444254.3:p.Ser1113del
NM_053027.3:c.3545_3547del	NP_444255.3:p.Ser1182del
NM_053028.3:c.3338_3340del	NP_444256.3:p.Ser1113del
XM_011512860.1:c.3545_3547del	XP_011511162.1:p.Ser1182del
XM_011512861.1:c.3545_3547del	XP_011511163.1:p.Ser1182del
XM_011512862.1:c.3017_3019del	XP_011511164.1:p.Ser1006del
NM_001321309.1:c.3017_3019del	NP_001308238.1:p.Ser1006del
XM_011512860.3:c.3575_3577del	XP_011511162.2:p.Ser1192del
XM_011512861.3:c.3575_3577del	XP_011511163.2:p.Ser1192del
XM_017006469.2:c.779_781del	XP_016861958.1:p.Ser260del
XM_024453532.1:c.3575_3577del	XP_024309300.1:p.Ser1192del
XM_024453533.1:c.3545_3547del	XP_024309301.1:p.Ser1182del
XM_024453534.1:c.3368_3370del	XP_024309302.1:p.Ser1123del
XM_024453535.1:c.3338_3340del	XP_024309303.1:p.Ser1113del
XM_024453536.1:c.3545_3547del	XP_024309304.1:p.Ser1182del
XM_024453537.1:c.3545_3547del	XP_024309305.1:p.Ser1182del
NM_001321309.2:c.3017_3019del	NP_001308238.1:p.Ser1006del
NM_053025.4:c.3545_3547del MANE Select	NP_444253.3:p.Ser1182del
NM_053026.4:c.3338_3340del	NP_444254.3:p.Ser1113del
NM_053027.4:c.3545_3547del	NP_444255.3:p.Ser1182del
NM_053028.4:c.3338_3340del	NP_444256.3:p.Ser1113del