Canonical Allele Identifier: CA868797380

Gene: PTCH1

Linked Data

• dbSNP Id: rs1156717569
• MyVariant Identifiers: chr9:g.98241216_98241218del (hg19) ; chr9:g.95478934_95478936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95478937_95478939del , CM000671.2:g.95478937_95478939del	GRCh38
NC_000009.11:g.98241219_98241221del , CM000671.1:g.98241219_98241221del	GRCh37
NC_000009.10:g.97281040_97281042del	NCBI36
NG_007664.1:g.43030_43032del , LRG_515:g.43030_43032del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711046.1:c.1017+64_1017+66del	ENSP00000518556.1:n.1017+64_1017+66del
ENST00000437951.6:c.1212+64_1212+66del MANE Plus Clinical	ENSP00000389744.2:n.1212+64_1212+66del
ENST00000690194.1:c.762+64_762+66del	ENSP00000509379.1:n.762+64_762+66del
ENST00000692981.1:c.762+64_762+66del	ENSP00000510238.1:n.762+64_762+66del
ENST00000331920.11:c.1215+64_1215+66del MANE Select	ENSP00000332353.6:n.1215+64_1215+66del
ENST00000331920.10:c.1215+64_1215+66del	ENSP00000332353.6:n.1215+64_1215+66del
ENST00000375271.4:c.366+64_366+66del	ENSP00000364420.4:n.366+64_366+66del
ENST00000375274.6:c.1212+64_1212+66del	ENSP00000364423.2:n.1212+64_1212+66del
ENST00000375290.6:c.852+64_852+66del	ENSP00000364439.2:n.852+64_852+66del
ENST00000418258.5:c.762+64_762+66del	ENSP00000396135.1:n.762+64_762+66del
ENST00000421141.5:c.762+64_762+66del	ENSP00000399981.1:n.762+64_762+66del
ENST00000429896.6:c.762+64_762+66del	ENSP00000414823.2:n.762+64_762+66del
ENST00000430669.6:c.1017+64_1017+66del	ENSP00000410287.2:n.1017+64_1017+66del
ENST00000437951.5:c.1017+64_1017+66del	ENSP00000389744.1:n.1017+64_1017+66del
NM_000264.3:c.1215+64_1215+66del , LRG_515t1:c.1215+64_1215+66del	NP_000255.2:n.1215+64_1215+66del
NM_001083602.1:c.1017+64_1017+66del , LRG_515t2:c.1017+64_1017+66del	NP_001077071.1:n.1017+64_1017+66del
NM_001083603.1:c.1212+64_1212+66del	NP_001077072.1:n.1212+64_1212+66del
NM_001083604.1:c.762+64_762+66del	NP_001077073.1:n.762+64_762+66del
NM_001083605.1:c.762+64_762+66del	NP_001077074.1:n.762+64_762+66del
NM_001083606.1:c.762+64_762+66del	NP_001077075.1:n.762+64_762+66del
NM_001083607.1:c.762+64_762+66del	NP_001077076.1:n.762+64_762+66del
XM_005252102.2:c.762+64_762+66del	XP_005252159.1:n.762+64_762+66del
XM_011518868.1:c.1215+64_1215+66del	XP_011517170.1:n.1215+64_1215+66del
XM_011518869.1:c.762+64_762+66del	XP_011517171.1:n.762+64_762+66del
XM_011518870.1:c.762+64_762+66del	XP_011517172.1:n.762+64_762+66del
XM_011518871.1:c.762+64_762+66del	XP_011517173.1:n.762+64_762+66del
XM_011518872.1:c.762+64_762+66del	XP_011517174.1:n.762+64_762+66del
XM_011518873.1:c.375+64_375+66del	XP_011517175.1:n.375+64_375+66del
XM_011518874.1:c.1215+64_1215+66del	XP_011517176.1:n.1215+64_1215+66del
NM_000264.4:c.1215+64_1215+66del	NP_000255.2:n.1215+64_1215+66del
NM_001083602.2:c.1017+64_1017+66del	NP_001077071.1:n.1017+64_1017+66del
NM_001083603.2:c.1212+64_1212+66del	NP_001077072.1:n.1212+64_1212+66del
NM_001083604.2:c.762+64_762+66del	NP_001077073.1:n.762+64_762+66del
NM_001083605.2:c.762+64_762+66del	NP_001077074.1:n.762+64_762+66del
NM_001083606.2:c.762+64_762+66del	NP_001077075.1:n.762+64_762+66del
NM_001083607.2:c.762+64_762+66del	NP_001077076.1:n.762+64_762+66del
NM_001354918.1:c.1215+64_1215+66del	NP_001341847.1:n.1215+64_1215+66del
NR_149061.1:n.1403+64_1403+66del
NM_000264.5:c.1215+64_1215+66del MANE Select	NP_000255.2:n.1215+64_1215+66del
NM_001083606.3:c.762+64_762+66del	NP_001077075.1:n.762+64_762+66del
NM_001354918.2:c.1215+64_1215+66del	NP_001341847.1:n.1215+64_1215+66del
NR_149061.2:n.2120+64_2120+66del
NM_001083602.3:c.1017+64_1017+66del	NP_001077071.1:n.1017+64_1017+66del
NM_001083603.3:c.1212+64_1212+66del MANE Plus Clinical	NP_001077072.1:n.1212+64_1212+66del
NM_001083604.3:c.762+64_762+66del	NP_001077073.1:n.762+64_762+66del
NM_001083605.3:c.762+64_762+66del	NP_001077074.1:n.762+64_762+66del
NM_001083607.3:c.762+64_762+66del	NP_001077076.1:n.762+64_762+66del