Canonical Allele Identifier: CA10630647

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 367636
• ClinVar RCV Id: RCV000326712 ; RCV000383688
• dbSNP Id: rs59205702
• gnomAD v2: 9-98206791-G-GCA
• gnomAD v3: 9-95444509-G-GCA
• gnomAD v4: 9-95444509-G-GCA
• MyVariant Identifiers: chr9:g.98206792_98206793dupCA (hg19) ; chr9:g.98206810_98206811insAC (hg19) ; chr9:g.98206795_98206796insCA (hg19) ; chr9:g.98206793_98206794insCA (hg19) ; chr9:g.98206791_98206792insCA (hg19) ; chr9:g.95444510_95444511dupCA (hg38) ; chr9:g.95444528_95444529insAC (hg38) ; chr9:g.95444513_95444514insCA (hg38) ; chr9:g.95444511_95444512insCA (hg38) ; chr9:g.95444509_95444510insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95444527_95444528dup , CM000671.2:g.95444527_95444528dup	GRCh38
NC_000009.11:g.98206809_98206810dup , CM000671.1:g.98206809_98206810dup	GRCh37
NC_000009.10:g.97246630_97246631dup	NCBI36
NG_007664.1:g.77455_77456dup , LRG_515:g.77455_77456dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.*1882_*1883dup	ENSP00000518556.1:n.*1882_*1883dup
ENST00000437951.6:c.*1882_*1883dup MANE Plus Clinical	ENSP00000389744.2:n.*1882_*1883dup
ENST00000687744.1:n.4942_4943dup
ENST00000690194.1:c.*4534_*4535dup	ENSP00000509379.1:n.*4534_*4535dup
ENST00000692981.1:c.*1882_*1883dup	ENSP00000510238.1:n.*1882_*1883dup
ENST00000693534.1:n.3573_3574dup
ENST00000331920.11:c.*1882_*1883dup MANE Select	ENSP00000332353.6:n.*1882_*1883dup
ENST00000331920.10:c.*1882_*1883dup	ENSP00000332353.6:n.*1882_*1883dup
ENST00000375290.6:c.9532_9533dup	ENSP00000364439.2:n.9532_9533dup
ENST00000418258.5:c.*1882_*1883dup	ENSP00000396135.1:n.*1882_*1883dup
ENST00000421141.5:c.*1882_*1883dup	ENSP00000399981.1:n.*1882_*1883dup
ENST00000429896.6:c.*1882_*1883dup	ENSP00000414823.2:n.*1882_*1883dup
ENST00000430669.6:c.*2401_*2402dup	ENSP00000410287.2:n.*2401_*2402dup
ENST00000437951.5:c.*1882_*1883dup	ENSP00000389744.1:n.*1882_*1883dup
ENST00000546744.5:n.3290_3291dup
NM_000264.3:c.*1882_*1883dup , LRG_515t1:c.*1882_*1883dup	NP_000255.2:n.*1882_*1883dup
NM_001083602.1:c.*1882_*1883dup , LRG_515t2:c.*1882_*1883dup	NP_001077071.1:n.*1882_*1883dup
NM_001083603.1:c.*1882_*1883dup	NP_001077072.1:n.*1882_*1883dup
NM_001083604.1:c.*1882_*1883dup	NP_001077073.1:n.*1882_*1883dup
NM_001083605.1:c.*1882_*1883dup	NP_001077074.1:n.*1882_*1883dup
NM_001083606.1:c.*1882_*1883dup	NP_001077075.1:n.*1882_*1883dup
NM_001083607.1:c.*1882_*1883dup	NP_001077076.1:n.*1882_*1883dup
XM_005252102.2:c.*1882_*1883dup	XP_005252159.1:n.*1882_*1883dup
XM_011518868.1:c.*1882_*1883dup	XP_011517170.1:n.*1882_*1883dup
XM_011518869.1:c.*1882_*1883dup	XP_011517171.1:n.*1882_*1883dup
XM_011518870.1:c.*1882_*1883dup	XP_011517172.1:n.*1882_*1883dup
XM_011518871.1:c.*1882_*1883dup	XP_011517173.1:n.*1882_*1883dup
XM_011518872.1:c.*1882_*1883dup	XP_011517174.1:n.*1882_*1883dup
XM_011518873.1:c.*1882_*1883dup	XP_011517175.1:n.*1882_*1883dup
NM_000264.4:c.*1882_*1883dup	NP_000255.2:n.*1882_*1883dup
NM_001083602.2:c.*1882_*1883dup	NP_001077071.1:n.*1882_*1883dup
NM_001083603.2:c.*1882_*1883dup	NP_001077072.1:n.*1882_*1883dup
NM_001083604.2:c.*1882_*1883dup	NP_001077073.1:n.*1882_*1883dup
NM_001083605.2:c.*1882_*1883dup	NP_001077074.1:n.*1882_*1883dup
NM_001083606.2:c.*1882_*1883dup	NP_001077075.1:n.*1882_*1883dup
NM_001083607.2:c.*1882_*1883dup	NP_001077076.1:n.*1882_*1883dup
NM_001354918.1:c.*1882_*1883dup	NP_001341847.1:n.*1882_*1883dup
NR_149061.1:n.6248_6249dup
NM_000264.5:c.*1882_*1883dup MANE Select	NP_000255.2:n.*1882_*1883dup
NM_001083606.3:c.*1882_*1883dup	NP_001077075.1:n.*1882_*1883dup
NM_001354918.2:c.*1882_*1883dup	NP_001341847.1:n.*1882_*1883dup
NR_149061.2:n.6965_6966dup
NM_001083602.3:c.*1882_*1883dup	NP_001077071.1:n.*1882_*1883dup
NM_001083603.3:c.*1882_*1883dup MANE Plus Clinical	NP_001077072.1:n.*1882_*1883dup
NM_001083604.3:c.*1882_*1883dup	NP_001077073.1:n.*1882_*1883dup
NM_001083605.3:c.*1882_*1883dup	NP_001077074.1:n.*1882_*1883dup
NM_001083607.3:c.*1882_*1883dup	NP_001077076.1:n.*1882_*1883dup