Canonical Allele Identifier: CA712927

Gene: MAP3K6

Linked Data

• ClinVar Variation Id: 493031
• ClinVar RCV Id: RCV000585285
• dbSNP Id: rs768616209
• ExAC: 1:27682166 CG / C
• gnomAD v2: 1-27682166-CG-C
• gnomAD v4: 1-27355675-CG-C
• MyVariant Identifiers: chr1:g.27682167del (hg19) ; chr1:g.27355676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27355678del , CM000663.2:g.27355678del	GRCh38
NC_000001.10:g.27682169del , CM000663.1:g.27682169del	GRCh37
NC_000001.9:g.27554756del	NCBI36
NG_051309.1:g.17362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357582.3:c.3781del MANE Select	ENSP00000350195.2:p.Arg1261AlafsTer?
ENST00000493901.6:n.3385del
ENST00000671291.1:n.3018del
ENST00000357582.2:c.3781del	ENSP00000350195.2:p.Arg1261AlafsTer?
ENST00000374040.7:c.3757del	ENSP00000363152.2:p.Arg1253AlafsTer?
ENST00000470890.1:n.835del
ENST00000472410.5:c.2362-324del
ENST00000486046.5:c.159-207del
ENST00000493901.5:c.3781del	ENSP00000419591.1:p.Arg1261AlafsTer?
NM_001297609.1:c.3757del	NP_001284538.1:p.Arg1253AlafsTer?
NM_004672.4:c.3781del	NP_004663.3:p.Arg1261AlafsTer?
XM_011542406.1:c.3712-207del	XP_011540708.1:n.3712-207del
XM_017002771.1:c.2524del	XP_016858260.1:p.Arg842AlafsTer?
XR_946795.3:n.5228del
NM_004672.5:c.3781del MANE Select	NP_004663.3:p.Arg1261AlafsTer?
NM_001297609.2:c.3757del	NP_001284538.1:p.Arg1253AlafsTer?