Canonical Allele Identifier: CA2673908358

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859764-TAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859768_56859770del , CM000667.2:g.56859768_56859770del	GRCh38
NC_000005.9:g.56155595_56155597del , CM000667.1:g.56155595_56155597del	GRCh37
NC_000005.8:g.56191352_56191354del	NCBI36
NG_031884.1:g.49696_49698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.687_689del MANE Select	ENSP00000382423.3:p.Ala230del
ENST00000399503.3:c.687_689del	ENSP00000382423.3:p.Ala230del
NM_005921.1:c.687_689del	NP_005912.1:p.Ala230del
XM_005248519.3:c.309_311del	XP_005248576.2:p.Ala104del
XM_011543406.1:c.432_434del	XP_011541708.1:p.Ala145del
XM_011543407.1:c.687_689del	XP_011541709.1:p.Ala230del
XM_011543408.1:c.687_689del	XP_011541710.1:p.Ala230del
XM_017009484.1:c.276_278del	XP_016864973.1:p.Ala93del
XM_017009485.1:c.198_200del	XP_016864974.1:p.Ala67del
XR_001742068.2:n.718_720del
NM_005921.2:c.687_689del MANE Select	NP_005912.1:p.Ala230del