Canonical Allele Identifier: CA444391345

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1264787027
• gnomAD v2: 5-56153320-T-TTTAAAACAGATATGG
• gnomAD v3: 5-56857493-T-TTTAAAACAGATATGG
• gnomAD v4: 5-56857493-T-TTTAAAACAGATATGG
• MyVariant Identifiers: chr5:g.56153320_56153321insTTAAAACAGATATGG (hg19) ; chr5:g.56857493_56857494insTTAAAACAGATATGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56857494_56857508dup , CM000667.2:g.56857494_56857508dup	GRCh38
NC_000005.9:g.56153321_56153335dup , CM000667.1:g.56153321_56153335dup	GRCh37
NC_000005.8:g.56189078_56189092dup	NCBI36
NG_031884.1:g.47422_47436dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.633+744_633+758dup MANE Select	ENSP00000382423.3:n.633+744_633+758dup
ENST00000399503.3:c.633+744_633+758dup	ENSP00000382423.3:n.633+744_633+758dup
NM_005921.1:c.633+744_633+758dup	NP_005912.1:n.633+744_633+758dup
XM_005248519.3:c.255+744_255+758dup	XP_005248576.2:n.255+744_255+758dup
XM_011543406.1:c.378+744_378+758dup	XP_011541708.1:n.378+744_378+758dup
XM_011543407.1:c.633+744_633+758dup	XP_011541709.1:n.633+744_633+758dup
XM_011543408.1:c.633+744_633+758dup	XP_011541710.1:n.633+744_633+758dup
XM_017009484.1:c.222+744_222+758dup	XP_016864973.1:n.222+744_222+758dup
XM_017009485.1:c.144+744_144+758dup	XP_016864974.1:n.144+744_144+758dup
XR_001742068.2:n.664+744_664+758dup
NM_005921.2:c.633+744_633+758dup MANE Select	NP_005912.1:n.633+744_633+758dup