Canonical Allele Identifier: CA59574578

Gene: PTCHD3P2 KLHL23

Linked Data

• dbSNP Id: rs988470685
• MyVariant Identifiers: chr2:g.170624140_170624155del (hg19) ; chr2:g.169767630_169767645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169767630_169767645del , CM000664.2:g.169767630_169767645del	GRCh38
NC_000002.11:g.170624140_170624155del , CM000664.1:g.170624140_170624155del	GRCh37
NC_000002.10:g.170332386_170332401del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000424937.1:n.1087+68_1087+83del (PTCHD3P2)
ENST00000437875.1:c.830-5690_830-5675del (KLHL23)	ENSP00000394732.1:n.830-5690_830-5675del
ENST00000448589.1:c.46-8811_46-8796del (KLHL23)