Canonical Allele Identifier: CA559801336

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1312951378
• gnomAD v2: 5-56177280-CT-C
• gnomAD v3: 5-56881453-CT-C
• gnomAD v4: 5-56881453-CT-C
• MyVariant Identifiers: chr5:g.56177281del (hg19) ; chr5:g.56881454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881456del , CM000667.2:g.56881456del	GRCh38
NC_000005.9:g.56177283del , CM000667.1:g.56177283del	GRCh37
NC_000005.8:g.56213040del	NCBI36
NG_031884.1:g.71384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2370-114del MANE Select	ENSP00000382423.3:n.2370-114del
ENST00000399503.3:c.2370-114del	ENSP00000382423.3:n.2370-114del
NM_005921.1:c.2370-114del	NP_005912.1:n.2370-114del
XM_005248519.3:c.1992-114del	XP_005248576.2:n.1992-114del
XM_011543406.1:c.2115-114del	XP_011541708.1:n.2115-114del
XM_011543407.1:c.2091-114del	XP_011541709.1:n.2091-114del
XM_011543408.1:c.2370-114del	XP_011541710.1:n.2370-114del
XM_017009484.1:c.1959-114del	XP_016864973.1:n.1959-114del
XM_017009485.1:c.1881-114del	XP_016864974.1:n.1881-114del
XR_001742068.2:n.2401-114del
NM_005921.2:c.2370-114del MANE Select	NP_005912.1:n.2370-114del