Canonical Allele Identifier: CA874020021

Gene: PTCHD1-AS

Linked Data

• dbSNP Id: rs1171940737
• gnomAD v3: X-23082260-CCTCT-C
• gnomAD v4: X-23082260-CCTCT-C
• MyVariant Identifiers: chrX:g.23100378_23100381del (hg19) ; chrX:g.23082261_23082264del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23082265_23082268del , CM000685.2:g.23082265_23082268del	GRCh38
NC_000023.10:g.23100382_23100385del , CM000685.1:g.23100382_23100385del	GRCh37
NC_000023.9:g.23010303_23010306del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_073010.1:n.260-18143_260-18140del
NR_073010.2:n.260-18143_260-18140del