Canonical Allele Identifier: CA2673909422

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56875200-A-ACCAGTGGGTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875203_56875214dup , CM000667.2:g.56875203_56875214dup	GRCh38
NC_000005.9:g.56171030_56171041dup , CM000667.1:g.56171030_56171041dup	GRCh37
NC_000005.8:g.56206787_56206798dup	NCBI36
NG_031884.1:g.65131_65142dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1858_1869dup MANE Select	ENSP00000382423.3:p.Ser623_Gln624insSerGl...
ENST00000399503.3:c.1858_1869dup	ENSP00000382423.3:p.Ser623_Gln624insSerGl...
NM_005921.1:c.1858_1869dup	NP_005912.1:p.Ser623_Gln624insSerGlySerSe...
XM_005248519.3:c.1480_1491dup	XP_005248576.2:p.Ser497_Gln498insSerGlySe...
XM_011543406.1:c.1603_1614dup	XP_011541708.1:p.Ser538_Gln539insSerGlySe...
XM_011543407.1:c.1686+2198_1686+2209dup	XP_011541709.1:n.1686+2198_1686+2209dup
XM_011543408.1:c.1858_1869dup	XP_011541710.1:p.Ser623_Gln624insSerGlySe...
XM_017009484.1:c.1447_1458dup	XP_016864973.1:p.Ser486_Gln487insSerGlySe...
XM_017009485.1:c.1369_1380dup	XP_016864974.1:p.Ser460_Gln461insSerGlySe...
XR_001742068.2:n.1889_1900dup
NM_005921.2:c.1858_1869dup MANE Select	NP_005912.1:p.Ser623_Gln624insSerGlySerSe...