Canonical Allele Identifier: CA16612772
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409183
ClinVar RCV Id: RCV000464019
dbSNP Id: rs1060502286

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95479008_95479009del , CM000671.2:g.95479008_95479009del GRCh38
NC_000009.11:g.98241290_98241291del , CM000671.1:g.98241290_98241291del GRCh37
NC_000009.10:g.97281111_97281112del NCBI36
NG_007664.1:g.42959_42960del , LRG_515:g.42959_42960del

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.1010_1011del ENSP00000518556.1:p.Tyr337CysfsTer?
ENST00000437951.6:c.1205_1206del MANE Plus Clinical ENSP00000389744.2:p.Tyr402CysfsTer?
ENST00000690194.1:c.755_756del ENSP00000509379.1:p.Tyr252CysfsTer?
ENST00000692981.1:c.755_756del ENSP00000510238.1:p.Tyr252CysfsTer?
ENST00000331920.11:c.1208_1209del MANE Select ENSP00000332353.6:p.Tyr403CysfsTer?
ENST00000331920.10:c.1208_1209del ENSP00000332353.6:p.Tyr403CysfsTer?
ENST00000375271.4:c.359_360del ENSP00000364420.4:p.Tyr120CysfsTer?
ENST00000375274.6:c.1205_1206del ENSP00000364423.2:p.Tyr402CysfsTer?
ENST00000375290.6:c.845_846del ENSP00000364439.2:p.Tyr282CysfsTer?
ENST00000418258.5:c.755_756del ENSP00000396135.1:p.Tyr252CysfsTer?
ENST00000421141.5:c.755_756del ENSP00000399981.1:p.Tyr252CysfsTer?
ENST00000429896.6:c.755_756del ENSP00000414823.2:p.Tyr252CysfsTer?
ENST00000430669.6:c.1010_1011del ENSP00000410287.2:p.Tyr337CysfsTer?
ENST00000437951.5:c.1010_1011del ENSP00000389744.1:p.Tyr337CysfsTer?
NM_000264.3:c.1208_1209del , LRG_515t1:c.1208_1209del NP_000255.2:p.Tyr403CysfsTer?
NM_001083602.1:c.1010_1011del , LRG_515t2:c.1010_1011del NP_001077071.1:p.Tyr337CysfsTer?
NM_001083603.1:c.1205_1206del NP_001077072.1:p.Tyr402CysfsTer?
NM_001083604.1:c.755_756del NP_001077073.1:p.Tyr252CysfsTer?
NM_001083605.1:c.755_756del NP_001077074.1:p.Tyr252CysfsTer?
NM_001083606.1:c.755_756del NP_001077075.1:p.Tyr252CysfsTer?
NM_001083607.1:c.755_756del NP_001077076.1:p.Tyr252CysfsTer?
XM_005252102.2:c.755_756del XP_005252159.1:p.Tyr252CysfsTer?
XM_011518868.1:c.1208_1209del XP_011517170.1:p.Tyr403CysfsTer?
XM_011518869.1:c.755_756del XP_011517171.1:p.Tyr252CysfsTer?
XM_011518870.1:c.755_756del XP_011517172.1:p.Tyr252CysfsTer?
XM_011518871.1:c.755_756del XP_011517173.1:p.Tyr252CysfsTer?
XM_011518872.1:c.755_756del XP_011517174.1:p.Tyr252CysfsTer?
XM_011518873.1:c.368_369del XP_011517175.1:p.Tyr123CysfsTer?
XM_011518874.1:c.1208_1209del XP_011517176.1:p.Tyr403CysfsTer?
NM_000264.4:c.1208_1209del NP_000255.2:p.Tyr403CysfsTer?
NM_001083602.2:c.1010_1011del NP_001077071.1:p.Tyr337CysfsTer?
NM_001083603.2:c.1205_1206del NP_001077072.1:p.Tyr402CysfsTer?
NM_001083604.2:c.755_756del NP_001077073.1:p.Tyr252CysfsTer?
NM_001083605.2:c.755_756del NP_001077074.1:p.Tyr252CysfsTer?
NM_001083606.2:c.755_756del NP_001077075.1:p.Tyr252CysfsTer?
NM_001083607.2:c.755_756del NP_001077076.1:p.Tyr252CysfsTer?
NM_001354918.1:c.1208_1209del NP_001341847.1:p.Tyr403CysfsTer?
NR_149061.1:n.1396_1397del
NM_000264.5:c.1208_1209del MANE Select NP_000255.2:p.Tyr403CysfsTer?
NM_001083606.3:c.755_756del NP_001077075.1:p.Tyr252CysfsTer?
NM_001354918.2:c.1208_1209del NP_001341847.1:p.Tyr403CysfsTer?
NR_149061.2:n.2113_2114del
NM_001083602.3:c.1010_1011del NP_001077071.1:p.Tyr337CysfsTer?
NM_001083603.3:c.1205_1206del MANE Plus Clinical NP_001077072.1:p.Tyr402CysfsTer?
NM_001083604.3:c.755_756del NP_001077073.1:p.Tyr252CysfsTer?
NM_001083605.3:c.755_756del NP_001077074.1:p.Tyr252CysfsTer?
NM_001083607.3:c.755_756del NP_001077076.1:p.Tyr252CysfsTer?