Canonical Allele Identifier: CA2673909985

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882324-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882327del , CM000667.2:g.56882327del	GRCh38
NC_000005.9:g.56178154del , CM000667.1:g.56178154del	GRCh37
NC_000005.8:g.56213911del	NCBI36
NG_031884.1:g.72255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3127del MANE Select	ENSP00000382423.3:p.Ser1043ProfsTer?
ENST00000399503.3:c.3127del	ENSP00000382423.3:p.Ser1043ProfsTer?
NM_005921.1:c.3127del	NP_005912.1:p.Ser1043ProfsTer?
XM_005248519.3:c.2749del	XP_005248576.2:p.Ser917ProfsTer?
XM_011543406.1:c.2872del	XP_011541708.1:p.Ser958ProfsTer?
XM_011543407.1:c.2848del	XP_011541709.1:p.Ser950ProfsTer?
XM_011543408.1:c.3127del	XP_011541710.1:p.Ser1043ProfsTer?
XM_017009484.1:c.2716del	XP_016864973.1:p.Ser906ProfsTer?
XM_017009485.1:c.2638del	XP_016864974.1:p.Ser880ProfsTer?
XR_001742068.2:n.3158del
NM_005921.2:c.3127del MANE Select	NP_005912.1:p.Ser1043ProfsTer?