Canonical Allele Identifier: CA10627739

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 367656
• ClinVar RCV Id: RCV000321708 ; RCV000357822 ; RCV001618676
• dbSNP Id: rs111365480
• gnomAD v2: 9-98208010-C-CA
• gnomAD v3: 9-95445728-C-CA
• gnomAD v4: 9-95445728-C-CA
• MyVariant Identifiers: chr9:g.98208011dupA (hg19) ; chr9:g.98208011_98208012insA (hg19) ; chr9:g.98208010_98208011insA (hg19) ; chr9:g.95445729dupA (hg38) ; chr9:g.95445729_95445730insA (hg38) ; chr9:g.95445728_95445729insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95445738dup , CM000671.2:g.95445738dup	GRCh38
NC_000009.11:g.98208020dup , CM000671.1:g.98208020dup	GRCh37
NC_000009.10:g.97247841dup	NCBI36
NG_007664.1:g.76237dup , LRG_515:g.76237dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.*664dup	ENSP00000518556.1:n.*664dup
ENST00000437951.6:c.*664dup MANE Plus Clinical	ENSP00000389744.2:n.*664dup
ENST00000687744.1:n.3724dup
ENST00000690194.1:c.*3316dup	ENSP00000509379.1:n.*3316dup
ENST00000692981.1:c.*664dup	ENSP00000510238.1:n.*664dup
ENST00000693534.1:n.2355dup
ENST00000331920.11:c.*664dup MANE Select	ENSP00000332353.6:n.*664dup
ENST00000331920.10:c.*664dup	ENSP00000332353.6:n.*664dup
ENST00000375290.6:c.8314dup	ENSP00000364439.2:n.8314dup
ENST00000418258.5:c.*664dup	ENSP00000396135.1:n.*664dup
ENST00000421141.5:c.*664dup	ENSP00000399981.1:n.*664dup
ENST00000429896.6:c.*664dup	ENSP00000414823.2:n.*664dup
ENST00000430669.6:c.*1183dup	ENSP00000410287.2:n.*1183dup
ENST00000437951.5:c.*664dup	ENSP00000389744.1:n.*664dup
ENST00000546744.5:n.2072dup
NM_000264.3:c.*664dup , LRG_515t1:c.*664dup	NP_000255.2:n.*664dup
NM_001083602.1:c.*664dup , LRG_515t2:c.*664dup	NP_001077071.1:n.*664dup
NM_001083603.1:c.*664dup	NP_001077072.1:n.*664dup
NM_001083604.1:c.*664dup	NP_001077073.1:n.*664dup
NM_001083605.1:c.*664dup	NP_001077074.1:n.*664dup
NM_001083606.1:c.*664dup	NP_001077075.1:n.*664dup
NM_001083607.1:c.*664dup	NP_001077076.1:n.*664dup
XM_005252102.2:c.*664dup	XP_005252159.1:n.*664dup
XM_011518868.1:c.*664dup	XP_011517170.1:n.*664dup
XM_011518869.1:c.*664dup	XP_011517171.1:n.*664dup
XM_011518870.1:c.*664dup	XP_011517172.1:n.*664dup
XM_011518871.1:c.*664dup	XP_011517173.1:n.*664dup
XM_011518872.1:c.*664dup	XP_011517174.1:n.*664dup
XM_011518873.1:c.*664dup	XP_011517175.1:n.*664dup
NM_000264.4:c.*664dup	NP_000255.2:n.*664dup
NM_001083602.2:c.*664dup	NP_001077071.1:n.*664dup
NM_001083603.2:c.*664dup	NP_001077072.1:n.*664dup
NM_001083604.2:c.*664dup	NP_001077073.1:n.*664dup
NM_001083605.2:c.*664dup	NP_001077074.1:n.*664dup
NM_001083606.2:c.*664dup	NP_001077075.1:n.*664dup
NM_001083607.2:c.*664dup	NP_001077076.1:n.*664dup
NM_001354918.1:c.*664dup	NP_001341847.1:n.*664dup
NR_149061.1:n.5030dup
NM_000264.5:c.*664dup MANE Select	NP_000255.2:n.*664dup
NM_001083606.3:c.*664dup	NP_001077075.1:n.*664dup
NM_001354918.2:c.*664dup	NP_001341847.1:n.*664dup
NR_149061.2:n.5747dup
NM_001083602.3:c.*664dup	NP_001077071.1:n.*664dup
NM_001083603.3:c.*664dup MANE Plus Clinical	NP_001077072.1:n.*664dup
NM_001083604.3:c.*664dup	NP_001077073.1:n.*664dup
NM_001083605.3:c.*664dup	NP_001077074.1:n.*664dup
NM_001083607.3:c.*664dup	NP_001077076.1:n.*664dup