Canonical Allele Identifier: CA1076361585

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1747375115
• gnomAD v3: 5-56857446-AC-A
• gnomAD v4: 5-56857446-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56857447del , CM000667.2:g.56857447del	GRCh38
NC_000005.9:g.56153274del , CM000667.1:g.56153274del	GRCh37
NC_000005.8:g.56189031del	NCBI36
NG_031884.1:g.47375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.633+697del MANE Select	ENSP00000382423.3:n.633+697del
ENST00000399503.3:c.633+697del	ENSP00000382423.3:n.633+697del
NM_005921.1:c.633+697del	NP_005912.1:n.633+697del
XM_005248519.3:c.255+697del	XP_005248576.2:n.255+697del
XM_011543406.1:c.378+697del	XP_011541708.1:n.378+697del
XM_011543407.1:c.633+697del	XP_011541709.1:n.633+697del
XM_011543408.1:c.633+697del	XP_011541710.1:n.633+697del
XM_017009484.1:c.222+697del	XP_016864973.1:n.222+697del
XM_017009485.1:c.144+697del	XP_016864974.1:n.144+697del
XR_001742068.2:n.664+697del
NM_005921.2:c.633+697del MANE Select	NP_005912.1:n.633+697del