Canonical Allele Identifier: CA444391722

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1747451408
• gnomAD v3: 5-56859835-TCTC-T
• gnomAD v4: 5-56859835-TCTC-T
• MyVariant Identifiers: chr5:g.56155663_56155665del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859838_56859840del , CM000667.2:g.56859838_56859840del	GRCh38
NC_000005.9:g.56155665_56155667del , CM000667.1:g.56155665_56155667del	GRCh37
NC_000005.8:g.56191422_56191424del	NCBI36
NG_031884.1:g.49766_49768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.757_759del MANE Select	ENSP00000382423.3:p.Pro253del
ENST00000399503.3:c.757_759del	ENSP00000382423.3:p.Pro253del
NM_005921.1:c.757_759del	NP_005912.1:p.Pro253del
XM_005248519.3:c.379_381del	XP_005248576.2:p.Pro127del
XM_011543406.1:c.502_504del	XP_011541708.1:p.Pro168del
XM_011543407.1:c.757_759del	XP_011541709.1:p.Pro253del
XM_011543408.1:c.757_759del	XP_011541710.1:p.Pro253del
XM_017009484.1:c.346_348del	XP_016864973.1:p.Pro116del
XM_017009485.1:c.268_270del	XP_016864974.1:p.Pro90del
XR_001742068.2:n.788_790del
NM_005921.2:c.757_759del MANE Select	NP_005912.1:p.Pro253del