Canonical Allele Identifier: CA1865624716
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95468629_95468633delinsATACT , CM000671.2:g.95468629_95468633delinsATACT GRCh38
NC_000009.11:g.98230911_98230915delinsATACT , CM000671.1:g.98230911_98230915delinsATACT GRCh37
NC_000009.10:g.97270732_97270736delinsATACT NCBI36
NG_007664.1:g.53333_53337delinsAGTAT , LRG_515:g.53333_53337delinsAGTAT

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.2052+118_2052+122delinsAGTAT ENSP00000518556.1:n.2052+118_2052+122deli...
ENST00000437951.6:c.2247+118_2247+122delinsAGTAT MANE Plus Clinical ENSP00000389744.2:n.2247+118_2247+122deli...
ENST00000690194.1:c.*558+118_*558+122delinsAGTAT ENSP00000509379.1:n.*558+118_*558+122deli...
ENST00000692981.1:c.1797+118_1797+122delinsAGTAT ENSP00000510238.1:n.1797+118_1797+122deli...
ENST00000331920.11:c.2250+118_2250+122delinsAGTAT MANE Select ENSP00000332353.6:n.2250+118_2250+122deli...
ENST00000331920.10:c.2250+118_2250+122delinsAGTAT ENSP00000332353.6:n.2250+118_2250+122deli...
ENST00000375274.6:c.2247+118_2247+122delinsAGTAT ENSP00000364423.2:n.2247+118_2247+122deli...
ENST00000375290.6:c.2019+118_2019+122delinsAGTAT ENSP00000364439.2:n.2019+118_2019+122deli...
ENST00000418258.5:c.1797+118_1797+122delinsAGTAT ENSP00000396135.1:n.1797+118_1797+122deli...
ENST00000421141.5:c.1797+118_1797+122delinsAGTAT ENSP00000399981.1:n.1797+118_1797+122deli...
ENST00000429896.6:c.1797+118_1797+122delinsAGTAT ENSP00000414823.2:n.1797+118_1797+122deli...
ENST00000430669.6:c.2052+118_2052+122delinsAGTAT ENSP00000410287.2:n.2052+118_2052+122deli...
ENST00000437951.5:c.2052+118_2052+122delinsAGTAT ENSP00000389744.1:n.2052+118_2052+122deli...
ENST00000549678.1:n.439+118_439+122delinsAGTAT
NM_000264.3:c.2250+118_2250+122delinsAGTAT , LRG_515t1:c.2250+118_2250+122delinsAGTAT NP_000255.2:n.2250+118_2250+122delinsAGTA...
NM_001083602.1:c.2052+118_2052+122delinsAGTAT , LRG_515t2:c.2052+118_2052+122delinsAGTAT NP_001077071.1:n.2052+118_2052+122delinsA...
NM_001083603.1:c.2247+118_2247+122delinsAGTAT NP_001077072.1:n.2247+118_2247+122delinsA...
NM_001083604.1:c.1797+118_1797+122delinsAGTAT NP_001077073.1:n.1797+118_1797+122delinsA...
NM_001083605.1:c.1797+118_1797+122delinsAGTAT NP_001077074.1:n.1797+118_1797+122delinsA...
NM_001083606.1:c.1797+118_1797+122delinsAGTAT NP_001077075.1:n.1797+118_1797+122delinsA...
NM_001083607.1:c.1797+118_1797+122delinsAGTAT NP_001077076.1:n.1797+118_1797+122delinsA...
NR_038982.1:n.597-30_597-26delinsATACT
XM_005252102.2:c.1797+118_1797+122delinsAGTAT XP_005252159.1:n.1797+118_1797+122delinsA...
XM_011518868.1:c.2094+118_2094+122delinsAGTAT XP_011517170.1:n.2094+118_2094+122delinsA...
XM_011518869.1:c.1797+118_1797+122delinsAGTAT XP_011517171.1:n.1797+118_1797+122delinsA...
XM_011518870.1:c.1797+118_1797+122delinsAGTAT XP_011517172.1:n.1797+118_1797+122delinsA...
XM_011518871.1:c.1797+118_1797+122delinsAGTAT XP_011517173.1:n.1797+118_1797+122delinsA...
XM_011518872.1:c.1797+118_1797+122delinsAGTAT XP_011517174.1:n.1797+118_1797+122delinsA...
XM_011518873.1:c.1410+118_1410+122delinsAGTAT XP_011517175.1:n.1410+118_1410+122delinsA...
XM_011518874.1:c.2250+118_2250+122delinsAGTAT XP_011517176.1:n.2250+118_2250+122delinsA...
NM_000264.4:c.2250+118_2250+122delinsAGTAT NP_000255.2:n.2250+118_2250+122delinsAGTA...
NM_001083602.2:c.2052+118_2052+122delinsAGTAT NP_001077071.1:n.2052+118_2052+122delinsA...
NM_001083603.2:c.2247+118_2247+122delinsAGTAT NP_001077072.1:n.2247+118_2247+122delinsA...
NM_001083604.2:c.1797+118_1797+122delinsAGTAT NP_001077073.1:n.1797+118_1797+122delinsA...
NM_001083605.2:c.1797+118_1797+122delinsAGTAT NP_001077074.1:n.1797+118_1797+122delinsA...
NM_001083606.2:c.1797+118_1797+122delinsAGTAT NP_001077075.1:n.1797+118_1797+122delinsA...
NM_001083607.2:c.1797+118_1797+122delinsAGTAT NP_001077076.1:n.1797+118_1797+122delinsA...
NM_001354918.1:c.2094+118_2094+122delinsAGTAT NP_001341847.1:n.2094+118_2094+122delinsA...
NR_149061.1:n.2438+118_2438+122delinsAGTAT
NM_000264.5:c.2250+118_2250+122delinsAGTAT MANE Select NP_000255.2:n.2250+118_2250+122delinsAGTA...
NM_001083606.3:c.1797+118_1797+122delinsAGTAT NP_001077075.1:n.1797+118_1797+122delinsA...
NM_001354918.2:c.2094+118_2094+122delinsAGTAT NP_001341847.1:n.2094+118_2094+122delinsA...
NR_149061.2:n.3155+118_3155+122delinsAGTAT
NM_001083602.3:c.2052+118_2052+122delinsAGTAT NP_001077071.1:n.2052+118_2052+122delinsA...
NM_001083603.3:c.2247+118_2247+122delinsAGTAT MANE Plus Clinical NP_001077072.1:n.2247+118_2247+122delinsA...
NM_001083604.3:c.1797+118_1797+122delinsAGTAT NP_001077073.1:n.1797+118_1797+122delinsA...
NM_001083605.3:c.1797+118_1797+122delinsAGTAT NP_001077074.1:n.1797+118_1797+122delinsA...
NM_001083607.3:c.1797+118_1797+122delinsAGTAT NP_001077076.1:n.1797+118_1797+122delinsA...