Canonical Allele Identifier: CA2544432796
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95481654dup , CM000671.2:g.95481654dup GRCh38
NC_000009.11:g.98243936dup , CM000671.1:g.98243936dup GRCh37
NC_000009.10:g.97283757dup NCBI36
NG_007664.1:g.40315dup , LRG_515:g.40315dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000711046.1:c.548+298dup ENSP00000518556.1:n.548+298dup
ENST00000437951.6:c.743+298dup MANE Plus Clinical ENSP00000389744.2:n.743+298dup
ENST00000690194.1:c.293+298dup ENSP00000509379.1:n.293+298dup
ENST00000692981.1:c.293+298dup ENSP00000510238.1:n.293+298dup
ENST00000331920.11:c.746+298dup MANE Select ENSP00000332353.6:n.746+298dup
ENST00000331920.10:c.746+298dup ENSP00000332353.6:n.746+298dup
ENST00000375274.6:c.743+298dup ENSP00000364423.2:n.743+298dup
ENST00000375290.6:c.384-1063dup ENSP00000364439.2:n.384-1063dup
ENST00000418258.5:c.293+298dup ENSP00000396135.1:n.293+298dup
ENST00000421141.5:c.293+298dup ENSP00000399981.1:n.293+298dup
ENST00000429896.6:c.293+298dup ENSP00000414823.2:n.293+298dup
ENST00000430669.6:c.548+298dup ENSP00000410287.2:n.548+298dup
ENST00000437951.5:c.548+298dup ENSP00000389744.1:n.548+298dup
ENST00000546820.5:c.293+298dup ENSP00000448843.1:n.293+298dup
ENST00000547672.5:c.293+298dup ENSP00000447878.1:n.293+298dup
ENST00000548379.5:n.399+298dup
ENST00000548420.1:c.-94-1063dup ENSP00000449078.1:n.-94-1063dup
ENST00000548945.6:n.194-1063dup
ENST00000550914.6:c.*88+298dup ENSP00000450047.1:n.*88+298dup
ENST00000551845.5:c.293+298dup ENSP00000447008.1:n.293+298dup
ENST00000553011.5:c.293+298dup ENSP00000447797.1:n.293+298dup
ENST00000553256.5:n.492+298dup
NM_000264.3:c.746+298dup , LRG_515t1:c.746+298dup NP_000255.2:n.746+298dup
NM_001083602.1:c.548+298dup , LRG_515t2:c.548+298dup NP_001077071.1:n.548+298dup
NM_001083603.1:c.743+298dup NP_001077072.1:n.743+298dup
NM_001083604.1:c.293+298dup NP_001077073.1:n.293+298dup
NM_001083605.1:c.293+298dup NP_001077074.1:n.293+298dup
NM_001083606.1:c.293+298dup NP_001077075.1:n.293+298dup
NM_001083607.1:c.293+298dup NP_001077076.1:n.293+298dup
XM_005252102.2:c.293+298dup XP_005252159.1:n.293+298dup
XM_011518868.1:c.746+298dup XP_011517170.1:n.746+298dup
XM_011518869.1:c.293+298dup XP_011517171.1:n.293+298dup
XM_011518870.1:c.293+298dup XP_011517172.1:n.293+298dup
XM_011518871.1:c.293+298dup XP_011517173.1:n.293+298dup
XM_011518872.1:c.293+298dup XP_011517174.1:n.293+298dup
XM_011518873.1:c.-94-1063dup XP_011517175.1:n.-94-1063dup
XM_011518874.1:c.746+298dup XP_011517176.1:n.746+298dup
NM_000264.4:c.746+298dup NP_000255.2:n.746+298dup
NM_001083602.2:c.548+298dup NP_001077071.1:n.548+298dup
NM_001083603.2:c.743+298dup NP_001077072.1:n.743+298dup
NM_001083604.2:c.293+298dup NP_001077073.1:n.293+298dup
NM_001083605.2:c.293+298dup NP_001077074.1:n.293+298dup
NM_001083606.2:c.293+298dup NP_001077075.1:n.293+298dup
NM_001083607.2:c.293+298dup NP_001077076.1:n.293+298dup
NM_001354918.1:c.746+298dup NP_001341847.1:n.746+298dup
NR_149061.1:n.934+298dup
NM_000264.5:c.746+298dup MANE Select NP_000255.2:n.746+298dup
NM_001083606.3:c.293+298dup NP_001077075.1:n.293+298dup
NM_001354918.2:c.746+298dup NP_001341847.1:n.746+298dup
NR_149061.2:n.1651+298dup
NM_001083602.3:c.548+298dup NP_001077071.1:n.548+298dup
NM_001083603.3:c.743+298dup MANE Plus Clinical NP_001077072.1:n.743+298dup
NM_001083604.3:c.293+298dup NP_001077073.1:n.293+298dup
NM_001083605.3:c.293+298dup NP_001077074.1:n.293+298dup
NM_001083607.3:c.293+298dup NP_001077076.1:n.293+298dup