Canonical Allele Identifier: CA891843142

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 575234
• ClinVar RCV Id: RCV000697396
• dbSNP Id: rs1564053040
• MyVariant Identifiers: chr9:g.98241300_98241307del (hg19) ; chr9:g.95479018_95479025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479023_95479030del , CM000671.2:g.95479023_95479030del	GRCh38
NC_000009.11:g.98241305_98241312del , CM000671.1:g.98241305_98241312del	GRCh37
NC_000009.10:g.97281126_97281133del	NCBI36
NG_007664.1:g.42941_42948del , LRG_515:g.42941_42948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.992_999del	ENSP00000518556.1:p.Glu331AlafsTer?
ENST00000437951.6:c.1187_1194del MANE Plus Clinical	ENSP00000389744.2:p.Glu396AlafsTer?
ENST00000690194.1:c.737_744del	ENSP00000509379.1:p.Glu246AlafsTer?
ENST00000692981.1:c.737_744del	ENSP00000510238.1:p.Glu246AlafsTer?
ENST00000331920.11:c.1190_1197del MANE Select	ENSP00000332353.6:p.Glu397AlafsTer?
ENST00000331920.10:c.1190_1197del	ENSP00000332353.6:p.Glu397AlafsTer?
ENST00000375271.4:c.341_348del	ENSP00000364420.4:p.Glu114AlafsTer?
ENST00000375274.6:c.1187_1194del	ENSP00000364423.2:p.Glu396AlafsTer?
ENST00000375290.6:c.827_834del	ENSP00000364439.2:p.Glu276AlafsTer?
ENST00000418258.5:c.737_744del	ENSP00000396135.1:p.Glu246AlafsTer?
ENST00000421141.5:c.737_744del	ENSP00000399981.1:p.Glu246AlafsTer?
ENST00000429896.6:c.737_744del	ENSP00000414823.2:p.Glu246AlafsTer?
ENST00000430669.6:c.992_999del	ENSP00000410287.2:p.Glu331AlafsTer?
ENST00000437951.5:c.992_999del	ENSP00000389744.1:p.Glu331AlafsTer?
NM_000264.3:c.1190_1197del , LRG_515t1:c.1190_1197del	NP_000255.2:p.Glu397AlafsTer?
NM_001083602.1:c.992_999del , LRG_515t2:c.992_999del	NP_001077071.1:p.Glu331AlafsTer?
NM_001083603.1:c.1187_1194del	NP_001077072.1:p.Glu396AlafsTer?
NM_001083604.1:c.737_744del	NP_001077073.1:p.Glu246AlafsTer?
NM_001083605.1:c.737_744del	NP_001077074.1:p.Glu246AlafsTer?
NM_001083606.1:c.737_744del	NP_001077075.1:p.Glu246AlafsTer?
NM_001083607.1:c.737_744del	NP_001077076.1:p.Glu246AlafsTer?
XM_005252102.2:c.737_744del	XP_005252159.1:p.Glu246AlafsTer?
XM_011518868.1:c.1190_1197del	XP_011517170.1:p.Glu397AlafsTer?
XM_011518869.1:c.737_744del	XP_011517171.1:p.Glu246AlafsTer?
XM_011518870.1:c.737_744del	XP_011517172.1:p.Glu246AlafsTer?
XM_011518871.1:c.737_744del	XP_011517173.1:p.Glu246AlafsTer?
XM_011518872.1:c.737_744del	XP_011517174.1:p.Glu246AlafsTer?
XM_011518873.1:c.350_357del	XP_011517175.1:p.Glu117AlafsTer?
XM_011518874.1:c.1190_1197del	XP_011517176.1:p.Glu397AlafsTer?
NM_000264.4:c.1190_1197del	NP_000255.2:p.Glu397AlafsTer?
NM_001083602.2:c.992_999del	NP_001077071.1:p.Glu331AlafsTer?
NM_001083603.2:c.1187_1194del	NP_001077072.1:p.Glu396AlafsTer?
NM_001083604.2:c.737_744del	NP_001077073.1:p.Glu246AlafsTer?
NM_001083605.2:c.737_744del	NP_001077074.1:p.Glu246AlafsTer?
NM_001083606.2:c.737_744del	NP_001077075.1:p.Glu246AlafsTer?
NM_001083607.2:c.737_744del	NP_001077076.1:p.Glu246AlafsTer?
NM_001354918.1:c.1190_1197del	NP_001341847.1:p.Glu397AlafsTer?
NR_149061.1:n.1378_1385del
NM_000264.5:c.1190_1197del MANE Select	NP_000255.2:p.Glu397AlafsTer?
NM_001083606.3:c.737_744del	NP_001077075.1:p.Glu246AlafsTer?
NM_001354918.2:c.1190_1197del	NP_001341847.1:p.Glu397AlafsTer?
NR_149061.2:n.2095_2102del
NM_001083602.3:c.992_999del	NP_001077071.1:p.Glu331AlafsTer?
NM_001083603.3:c.1187_1194del MANE Plus Clinical	NP_001077072.1:p.Glu396AlafsTer?
NM_001083604.3:c.737_744del	NP_001077073.1:p.Glu246AlafsTer?
NM_001083605.3:c.737_744del	NP_001077074.1:p.Glu246AlafsTer?
NM_001083607.3:c.737_744del	NP_001077076.1:p.Glu246AlafsTer?