Canonical Allele Identifier: CA645563849

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859893-GAA-G
• COSMIC: COSM5752341

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859897_56859898del , CM000667.2:g.56859897_56859898del	GRCh38
NC_000005.9:g.56155724_56155725del , CM000667.1:g.56155724_56155725del	GRCh37
NC_000005.8:g.56191481_56191482del	NCBI36
NG_031884.1:g.49825_49826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.816_817del MANE Select	ENSP00000382423.3:p.Arg273SerfsTer27
ENST00000399503.3:c.816_817del	ENSP00000382423.3:p.Arg273SerfsTer27
NM_005921.1:c.816_817del	NP_005912.1:p.Arg273SerfsTer27
XM_005248519.3:c.438_439del	XP_005248576.2:p.Arg147SerfsTer27
XM_011543406.1:c.561_562del	XP_011541708.1:p.Arg188SerfsTer27
XM_011543407.1:c.816_817del	XP_011541709.1:p.Arg273SerfsTer27
XM_011543408.1:c.816_817del	XP_011541710.1:p.Arg273SerfsTer27
XM_017009484.1:c.405_406del	XP_016864973.1:p.Arg136SerfsTer27
XM_017009485.1:c.327_328del	XP_016864974.1:p.Arg110SerfsTer27
XR_001742068.2:n.847_848del
NM_005921.2:c.816_817del MANE Select	NP_005912.1:p.Arg273SerfsTer27