Canonical Allele Identifier: CA072931

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 221923
• ClinVar RCV Id: RCV000207438 ; RCV002258831 ; RCV002227460 ; RCV002288834
• dbSNP Id: rs752765582
• ExAC: 9:98279098 TC / T
• gnomAD v2: 9-98279098-TC-T
• gnomAD v3: 9-95516816-TC-T
• gnomAD v4: 9-95516816-TC-T
• MyVariant Identifiers: chr9:g.98279099del (hg19) ; chr9:g.95516817del (hg38)
• PubMed: PMID:26893459

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95516818del , CM000671.2:g.95516818del	GRCh38
NC_000009.11:g.98279100del , CM000671.1:g.98279100del	GRCh37
NC_000009.10:g.97318921del	NCBI36
NG_007664.1:g.5149del , LRG_515:g.5149del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711046.1:c.-346del	ENSP00000518556.1:n.-346del
ENST00000437951.6:c.4del MANE Plus Clinical	ENSP00000389744.2:p.Glu2AsnfsTer9
ENST00000375274.6:c.4del	ENSP00000364423.2:p.Glu2AsnfsTer9
ENST00000430669.6:c.-346del	ENSP00000410287.2:n.-346del
ENST00000437951.5:c.-346del	ENSP00000389744.1:n.-346del
ENST00000468211.6:c.-346del	ENSP00000449745.1:n.-346del
NM_001083602.1:c.-346del , LRG_515t2:c.-346del	NP_001077071.1:n.-346del
NM_001083603.1:c.4del	NP_001077072.1:p.Glu2AsnfsTer9
NM_001083602.2:c.-346del	NP_001077071.1:n.-346del
NM_001083603.2:c.4del	NP_001077072.1:p.Glu2AsnfsTer9
NM_001354919.1:c.-346del	NP_001341848.1:n.-346del
NM_001083602.3:c.-346del	NP_001077071.1:n.-346del
NM_001083603.3:c.4del MANE Plus Clinical	NP_001077072.1:p.Glu2AsnfsTer9
NM_001354919.2:c.-346del	NP_001341848.1:n.-346del