Canonical Allele Identifier: CA812346996

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1308367519
• gnomAD v3: 5-56875578-GAA-G
• gnomAD v4: 5-56875578-GAA-G
• MyVariant Identifiers: chr5:g.56171406_56171407del (hg19) ; chr5:g.56875579_56875580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875579_56875580del , CM000667.2:g.56875579_56875580del	GRCh38
NC_000005.9:g.56171406_56171407del , CM000667.1:g.56171406_56171407del	GRCh37
NC_000005.8:g.56207163_56207164del	NCBI36
NG_031884.1:g.65507_65508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1965+269_1965+270del MANE Select	ENSP00000382423.3:n.1965+269_1965+270del
ENST00000399503.3:c.1965+269_1965+270del	ENSP00000382423.3:n.1965+269_1965+270del
NM_005921.1:c.1965+269_1965+270del	NP_005912.1:n.1965+269_1965+270del
XM_005248519.3:c.1587+269_1587+270del	XP_005248576.2:n.1587+269_1587+270del
XM_011543406.1:c.1710+269_1710+270del	XP_011541708.1:n.1710+269_1710+270del
XM_011543407.1:c.1686+2574_1686+2575del	XP_011541709.1:n.1686+2574_1686+2575del
XM_011543408.1:c.1965+269_1965+270del	XP_011541710.1:n.1965+269_1965+270del
XM_017009484.1:c.1554+269_1554+270del	XP_016864973.1:n.1554+269_1554+270del
XM_017009485.1:c.1476+269_1476+270del	XP_016864974.1:n.1476+269_1476+270del
XR_001742068.2:n.1996+269_1996+270del
NM_005921.2:c.1965+269_1965+270del MANE Select	NP_005912.1:n.1965+269_1965+270del