Canonical Allele Identifier: CA2673909984

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882253-C-CTCCTCAAACACAGCGCAAGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882255_56882275dup , CM000667.2:g.56882255_56882275dup	GRCh38
NC_000005.9:g.56178082_56178102dup , CM000667.1:g.56178082_56178102dup	GRCh37
NC_000005.8:g.56213839_56213859dup	NCBI36
NG_031884.1:g.72183_72203dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3055_3075dup MANE Select	ENSP00000382423.3:p.Phe1025_Ser1026insProGlnThrGlnArgLysPhe
ENST00000399503.3:c.3055_3075dup	ENSP00000382423.3:p.Phe1025_Ser1026insProGlnThrGlnArgLysPhe
NM_005921.1:c.3055_3075dup	NP_005912.1:p.Phe1025_Ser1026insProGlnThrGlnArgLysPhe
XM_005248519.3:c.2677_2697dup	XP_005248576.2:p.Phe899_Ser900insProGlnThrGlnArgLysPhe
XM_011543406.1:c.2800_2820dup	XP_011541708.1:p.Phe940_Ser941insProGlnThrGlnArgLysPhe
XM_011543407.1:c.2776_2796dup	XP_011541709.1:p.Phe932_Ser933insProGlnThrGlnArgLysPhe
XM_011543408.1:c.3055_3075dup	XP_011541710.1:p.Phe1025_Ser1026insProGlnThrGlnArgLysPhe
XM_017009484.1:c.2644_2664dup	XP_016864973.1:p.Phe888_Ser889insProGlnThrGlnArgLysPhe
XM_017009485.1:c.2566_2586dup	XP_016864974.1:p.Phe862_Ser863insProGlnThrGlnArgLysPhe
XR_001742068.2:n.3086_3106dup
NM_005921.2:c.3055_3075dup MANE Select	NP_005912.1:p.Phe1025_Ser1026insProGlnThrGlnArgLysPhe