Canonical Allele Identifier: CA559743537

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1312778648
• gnomAD v2: 5-56153312-TTTG-T
• gnomAD v3: 5-56857485-TTTG-T
• gnomAD v4: 5-56857485-TTTG-T
• MyVariant Identifiers: chr5:g.56153313_56153315del (hg19) ; chr5:g.56857486_56857488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56857488_56857490del , CM000667.2:g.56857488_56857490del	GRCh38
NC_000005.9:g.56153315_56153317del , CM000667.1:g.56153315_56153317del	GRCh37
NC_000005.8:g.56189072_56189074del	NCBI36
NG_031884.1:g.47416_47418del

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.633+738_633+740del MANE Select	ENSP00000382423.3:n.633+738_633+740del
ENST00000399503.3:c.633+738_633+740del	ENSP00000382423.3:n.633+738_633+740del
NM_005921.1:c.633+738_633+740del	NP_005912.1:n.633+738_633+740del
XM_005248519.3:c.255+738_255+740del	XP_005248576.2:n.255+738_255+740del
XM_011543406.1:c.378+738_378+740del	XP_011541708.1:n.378+738_378+740del
XM_011543407.1:c.633+738_633+740del	XP_011541709.1:n.633+738_633+740del
XM_011543408.1:c.633+738_633+740del	XP_011541710.1:n.633+738_633+740del
XM_017009484.1:c.222+738_222+740del	XP_016864973.1:n.222+738_222+740del
XM_017009485.1:c.144+738_144+740del	XP_016864974.1:n.144+738_144+740del
XR_001742068.2:n.664+738_664+740del
NM_005921.2:c.633+738_633+740del MANE Select	NP_005912.1:n.633+738_633+740del