Canonical Allele Identifier: CA2580611450

Gene: MYSM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58681900_58681903del , CM000663.2:g.58681900_58681903del	GRCh38
NC_000001.10:g.59147572_59147575del , CM000663.1:g.59147572_59147575del	GRCh37
NC_000001.9:g.58920160_58920163del	NCBI36
NG_065323.1:g.23194_23197del
NG_065323.2:g.23180_23183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000659812.2:c.1146_1149del	ENSP00000499686.2:p.Asp382GlufsTer28
ENST00000697253.1:c.1067_1070del	ENSP00000513210.1:n.1067_1070del
ENST00000697254.1:c.*707_*710del	ENSP00000513211.1:n.*707_*710del
ENST00000697255.1:c.1122_1125del	ENSP00000513212.1:p.Asp374GlufsTer28
ENST00000697257.1:n.2265_2268del
ENST00000697258.1:n.1650_1653del
ENST00000697261.1:n.1162_1165del
ENST00000697262.1:n.2091_2094del
ENST00000697263.1:n.1166_1169del
ENST00000472487.6:c.1146_1149del MANE Select	ENSP00000418734.1:p.Asp382GlufsTer28
ENST00000493821.6:n.1195_1198del
ENST00000655340.1:c.1146_1149del	ENSP00000499373.1:p.Asp382GlufsTer28
ENST00000659108.1:c.*707_*710del	ENSP00000499571.1:n.*707_*710del
ENST00000659812.1:c.1093_1096del
ENST00000660611.1:n.1095_1098del
ENST00000665648.1:c.1146_1149del	ENSP00000499586.1:p.Asp382GlufsTer28
ENST00000401044.7:n.905_908del
ENST00000472487.5:c.1146_1149del	ENSP00000418734.1:p.Asp382GlufsTer28
ENST00000493821.5:n.1195_1198del
NM_001085487.2:c.1146_1149del	NP_001078956.1:p.Asp382GlufsTer28
XM_006710314.2:c.1146_1149del	XP_006710377.1:p.Asp382GlufsTer28
XM_011540573.1:c.945_948del	XP_011538875.1:p.Asp315GlufsTer28
XM_011540574.1:c.879_882del	XP_011538876.1:p.Asp293GlufsTer28
XR_246231.3:n.1186_1189del
XR_946533.1:n.1186_1189del
XM_006710314.3:c.1146_1149del	XP_006710377.1:p.Asp382GlufsTer28
XM_011540573.3:c.945_948del	XP_011538875.1:p.Asp315GlufsTer28
XM_011540574.2:c.879_882del	XP_011538876.1:p.Asp293GlufsTer28
XR_246231.4:n.1185_1188del
XR_946533.2:n.1185_1188del
NM_001085487.3:c.1146_1149del MANE Select	NP_001078956.1:p.Asp382GlufsTer28