Canonical Allele Identifier: CA3272993

Gene: MAP3K1

Linked Data

• dbSNP Id: rs747066824
• ExAC: 5:56177382 G / GT
• gnomAD v2: 5-56177382-G-GT
• gnomAD v3: 5-56881555-G-GT
• gnomAD v4: 5-56881555-G-GT
• MyVariant Identifiers: chr5:g.56177382_56177383insT (hg19) ; chr5:g.56881555_56881556insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881562dup , CM000667.2:g.56881562dup	GRCh38
NC_000005.9:g.56177389dup , CM000667.1:g.56177389dup	GRCh37
NC_000005.8:g.56213146dup	NCBI36
NG_031884.1:g.71490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2370-8dup MANE Select	ENSP00000382423.3:n.2370-8dup
ENST00000399503.3:c.2370-8dup	ENSP00000382423.3:n.2370-8dup
NM_005921.1:c.2370-8dup	NP_005912.1:n.2370-8dup
XM_005248519.3:c.1992-8dup	XP_005248576.2:n.1992-8dup
XM_011543406.1:c.2115-8dup	XP_011541708.1:n.2115-8dup
XM_011543407.1:c.2091-8dup	XP_011541709.1:n.2091-8dup
XM_011543408.1:c.2370-8dup	XP_011541710.1:n.2370-8dup
XM_017009484.1:c.1959-8dup	XP_016864973.1:n.1959-8dup
XM_017009485.1:c.1881-8dup	XP_016864974.1:n.1881-8dup
XR_001742068.2:n.2401-8dup
NM_005921.2:c.2370-8dup MANE Select	NP_005912.1:n.2370-8dup