Canonical Allele Identifier: CA119520102

Gene: MAP3K1

Linked Data

• dbSNP Id: rs869280708
• MyVariant Identifiers: chr5:g.56155658del (hg19) ; chr5:g.56859831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859831del , CM000667.2:g.56859831del	GRCh38
NC_000005.9:g.56155658del , CM000667.1:g.56155658del	GRCh37
NC_000005.8:g.56191415del	NCBI36
NG_031884.1:g.49759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.750del MANE Select	ENSP00000382423.3:p.Pro251LeufsTer12
ENST00000399503.3:c.750del	ENSP00000382423.3:p.Pro251LeufsTer12
NM_005921.1:c.750del	NP_005912.1:p.Pro251LeufsTer12
XM_005248519.3:c.372del	XP_005248576.2:p.Pro125LeufsTer12
XM_011543406.1:c.495del	XP_011541708.1:p.Pro166LeufsTer12
XM_011543407.1:c.750del	XP_011541709.1:p.Pro251LeufsTer12
XM_011543408.1:c.750del	XP_011541710.1:p.Pro251LeufsTer12
XM_017009484.1:c.339del	XP_016864973.1:p.Pro114LeufsTer12
XM_017009485.1:c.261del	XP_016864974.1:p.Pro88LeufsTer12
XR_001742068.2:n.781del
NM_005921.2:c.750del MANE Select	NP_005912.1:p.Pro251LeufsTer12