Canonical Allele Identifier: CA891843141

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 572838
• ClinVar RCV Id: RCV000694324
• MyVariant Identifiers: chr9:g.98240426_98242927del (hg19) ; chr9:g.95478145_95480646del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95478145_95480646del , CM000671.2:g.95478145_95480646del	GRCh38
NC_000009.11:g.98240427_98242928del , CM000671.1:g.98240427_98242928del	GRCh37
NC_000009.10:g.97280248_97282749del	NCBI36
NG_007664.1:g.41324_43825del , LRG_515:g.41324_43825del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711046.1:c.549-54_1063del
ENST00000437951.6:c.744-54_1258del
ENST00000690194.1:c.294-54_808del
ENST00000692981.1:c.294-54_808del
ENST00000331920.11:c.747-54_1261del
ENST00000331920.10:c.747-54_1261del
ENST00000375274.6:c.744-54_1258del
ENST00000375290.6:c.384-54_898del
ENST00000418258.5:c.294-54_808del
ENST00000421141.5:c.294-54_808del
ENST00000429896.6:c.294-54_808del
ENST00000430669.6:c.549-54_1063del
ENST00000437951.5:c.549-54_1063del
NM_000264.3:c.747-54_1261del , LRG_515t1:c.747-54_1261del
NM_001083602.1:c.549-54_1063del , LRG_515t2:c.549-54_1063del
NM_001083603.1:c.744-54_1258del
NM_001083604.1:c.294-54_808del
NM_001083605.1:c.294-54_808del
NM_001083606.1:c.294-54_808del
NM_001083607.1:c.294-54_808del
XM_005252102.2:c.294-54_808del
XM_011518868.1:c.747-54_1261del
XM_011518869.1:c.294-54_808del
XM_011518870.1:c.294-54_808del
XM_011518871.1:c.294-54_808del
XM_011518872.1:c.294-54_808del
XM_011518873.1:c.-94-54_421del
XM_011518874.1:c.747-54_1261del
NM_000264.4:c.747-54_1261del
NM_001083602.2:c.549-54_1063del
NM_001083603.2:c.744-54_1258del
NM_001083604.2:c.294-54_808del
NM_001083605.2:c.294-54_808del
NM_001083606.2:c.294-54_808del
NM_001083607.2:c.294-54_808del
NM_001354918.1:c.747-54_1261del
NR_149061.1:n.935-54_1449del
NM_000264.5:c.747-54_1261del
NM_001083606.3:c.294-54_808del
NM_001354918.2:c.747-54_1261del
NR_149061.2:n.1652-54_2166del
NM_001083602.3:c.549-54_1063del
NM_001083603.3:c.744-54_1258del
NM_001083604.3:c.294-54_808del
NM_001083605.3:c.294-54_808del
NM_001083607.3:c.294-54_808del