Canonical Allele Identifier: CA1131647582

Gene: PTCHD1

Linked Data

• ClinVar Variation Id: 988740
• ClinVar RCV Id: RCV001270404
• dbSNP Id: rs1569143333
• gnomAD v3: X-23393491-GAGA-G
• gnomAD v4: X-23393491-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23393496_23393498del , CM000685.2:g.23393496_23393498del	GRCh38
NC_000023.10:g.23411613_23411615del , CM000685.1:g.23411613_23411615del	GRCh37
NC_000023.9:g.23321534_23321536del	NCBI36
NG_021300.1:g.63629_63631del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379361.5:c.1978_1980del MANE Select	ENSP00000368666.4:p.Glu660del
ENST00000379361.4:c.1978_1980del	ENSP00000368666.4:p.Glu660del
NM_173495.2:c.1978_1980del	NP_775766.2:p.Glu660del
XM_011545449.1:c.1978_1980del	XP_011543751.1:p.Glu660del
XM_011545449.3:c.1978_1980del	XP_011543751.1:p.Glu660del
NM_173495.3:c.1978_1980del MANE Select	NP_775766.2:p.Glu660del