Canonical Allele Identifier: CA559802750

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1338345984
• gnomAD v2: 5-56155699-CAG-C
• gnomAD v4: 5-56859872-CAG-C
• MyVariant Identifiers: chr5:g.56155700_56155701del (hg19) ; chr5:g.56859873_56859874del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859874_56859875del , CM000667.2:g.56859874_56859875del	GRCh38
NC_000005.9:g.56155701_56155702del , CM000667.1:g.56155701_56155702del	GRCh37
NC_000005.8:g.56191458_56191459del	NCBI36
NG_031884.1:g.49802_49803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.793_794del MANE Select	ENSP00000382423.3:p.Glu265IlefsTer?
ENST00000399503.3:c.793_794del	ENSP00000382423.3:p.Glu265IlefsTer?
NM_005921.1:c.793_794del	NP_005912.1:p.Glu265IlefsTer?
XM_005248519.3:c.415_416del	XP_005248576.2:p.Glu139IlefsTer?
XM_011543406.1:c.538_539del	XP_011541708.1:p.Glu180IlefsTer?
XM_011543407.1:c.793_794del	XP_011541709.1:p.Glu265IlefsTer?
XM_011543408.1:c.793_794del	XP_011541710.1:p.Glu265IlefsTer?
XM_017009484.1:c.382_383del	XP_016864973.1:p.Glu128IlefsTer?
XM_017009485.1:c.304_305del	XP_016864974.1:p.Glu102IlefsTer?
XR_001742068.2:n.824_825del
NM_005921.2:c.793_794del MANE Select	NP_005912.1:p.Glu265IlefsTer?