Canonical Allele Identifier: CA9568374

Gene: HRC

Linked Data

• ClinVar Variation Id: 369288
• ClinVar RCV Id: RCV000397811
• dbSNP Id: rs61355957
• ExAC: 19:49657710 ACAT / A
• gnomAD v2: 19-49657710-ACAT-A
• gnomAD v3: 19-49154453-ACAT-A
• gnomAD v4: 19-49154453-ACAT-A
• COSMIC: COSM1631013
• MyVariant Identifiers: chr19:g.49657723_49657725del (hg19) ; chr19:g.49657711_49657713del (hg19) ; chr19:g.49154466_49154468del (hg38) ; chr19:g.49154454_49154456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49154494_49154496del , CM000681.2:g.49154494_49154496del	GRCh38
NC_000019.9:g.49657751_49657753del , CM000681.1:g.49657751_49657753del	GRCh37
NC_000019.8:g.54349563_54349565del	NCBI36
NG_027551.1:g.1736_1738del
NG_027551.2:g.1736_1738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252825.9:c.782_784del MANE Select	ENSP00000252825.3:p.Asp261del
ENST00000252825.8:c.782_784del	ENSP00000252825.3:p.Asp261del
ENST00000595625.1:c.782_784del	ENSP00000470288.1:p.Asp261del
NM_002152.2:c.782_784del	NP_002143.1:p.Asp261del
XR_243928.2:n.974_976del
XM_017026733.2:c.1004_1006del	XP_016882222.2:p.Asp335del
NM_002152.3:c.782_784del MANE Select	NP_002143.1:p.Asp261del