Canonical Allele Identifier: CA772085987

Gene: HCRT

Linked Data

• dbSNP Id: rs1357968477
• gnomAD v4: 17-42184659-TCTC-T
• MyVariant Identifiers: chr17:g.40336678_40336680del (hg19) ; chr17:g.42184660_42184662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42184662_42184664del , CM000679.2:g.42184662_42184664del	GRCh38
NC_000017.10:g.40336680_40336682del , CM000679.1:g.40336680_40336682del	GRCh37
NC_000017.9:g.37590206_37590208del	NCBI36
NG_011448.1:g.5791_5793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293330.1:c.22-134_22-132del MANE Select	ENSP00000293330.1:n.22-134_22-132del
NM_001524.1:c.22-134_22-132del MANE Select	NP_001515.1:n.22-134_22-132del