Canonical Allele Identifier: CA2695196225
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95468642_95468643delinsAT , CM000671.2:g.95468642_95468643delinsAT GRCh38
NC_000009.11:g.98230924_98230925delinsAT , CM000671.1:g.98230924_98230925delinsAT GRCh37
NC_000009.10:g.97270745_97270746delinsAT NCBI36
NG_007664.1:g.53323_53324delinsAT , LRG_515:g.53323_53324delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.2052+108_2052+109delinsAT ENSP00000518556.1:n.2052+108_2052+109deli...
ENST00000437951.6:c.2247+108_2247+109delinsAT MANE Plus Clinical ENSP00000389744.2:n.2247+108_2247+109deli...
ENST00000690194.1:c.*558+108_*558+109delinsAT ENSP00000509379.1:n.*558+108_*558+109deli...
ENST00000692981.1:c.1797+108_1797+109delinsAT ENSP00000510238.1:n.1797+108_1797+109deli...
ENST00000331920.11:c.2250+108_2250+109delinsAT MANE Select ENSP00000332353.6:n.2250+108_2250+109deli...
ENST00000331920.10:c.2250+108_2250+109delinsAT ENSP00000332353.6:n.2250+108_2250+109deli...
ENST00000375274.6:c.2247+108_2247+109delinsAT ENSP00000364423.2:n.2247+108_2247+109deli...
ENST00000375290.6:c.2019+108_2019+109delinsAT ENSP00000364439.2:n.2019+108_2019+109deli...
ENST00000418258.5:c.1797+108_1797+109delinsAT ENSP00000396135.1:n.1797+108_1797+109deli...
ENST00000421141.5:c.1797+108_1797+109delinsAT ENSP00000399981.1:n.1797+108_1797+109deli...
ENST00000429896.6:c.1797+108_1797+109delinsAT ENSP00000414823.2:n.1797+108_1797+109deli...
ENST00000430669.6:c.2052+108_2052+109delinsAT ENSP00000410287.2:n.2052+108_2052+109deli...
ENST00000437951.5:c.2052+108_2052+109delinsAT ENSP00000389744.1:n.2052+108_2052+109deli...
ENST00000549678.1:n.439+108_439+109delinsAT
NM_000264.3:c.2250+108_2250+109delinsAT , LRG_515t1:c.2250+108_2250+109delinsAT NP_000255.2:n.2250+108_2250+109delinsAT
NM_001083602.1:c.2052+108_2052+109delinsAT , LRG_515t2:c.2052+108_2052+109delinsAT NP_001077071.1:n.2052+108_2052+109delinsA...
NM_001083603.1:c.2247+108_2247+109delinsAT NP_001077072.1:n.2247+108_2247+109delinsA...
NM_001083604.1:c.1797+108_1797+109delinsAT NP_001077073.1:n.1797+108_1797+109delinsA...
NM_001083605.1:c.1797+108_1797+109delinsAT NP_001077074.1:n.1797+108_1797+109delinsA...
NM_001083606.1:c.1797+108_1797+109delinsAT NP_001077075.1:n.1797+108_1797+109delinsA...
NM_001083607.1:c.1797+108_1797+109delinsAT NP_001077076.1:n.1797+108_1797+109delinsA...
NR_038982.1:n.597-17_597-16delinsAT
XM_005252102.2:c.1797+108_1797+109delinsAT XP_005252159.1:n.1797+108_1797+109delinsA...
XM_011518868.1:c.2094+108_2094+109delinsAT XP_011517170.1:n.2094+108_2094+109delinsA...
XM_011518869.1:c.1797+108_1797+109delinsAT XP_011517171.1:n.1797+108_1797+109delinsA...
XM_011518870.1:c.1797+108_1797+109delinsAT XP_011517172.1:n.1797+108_1797+109delinsA...
XM_011518871.1:c.1797+108_1797+109delinsAT XP_011517173.1:n.1797+108_1797+109delinsA...
XM_011518872.1:c.1797+108_1797+109delinsAT XP_011517174.1:n.1797+108_1797+109delinsA...
XM_011518873.1:c.1410+108_1410+109delinsAT XP_011517175.1:n.1410+108_1410+109delinsA...
XM_011518874.1:c.2250+108_2250+109delinsAT XP_011517176.1:n.2250+108_2250+109delinsA...
NM_000264.4:c.2250+108_2250+109delinsAT NP_000255.2:n.2250+108_2250+109delinsAT
NM_001083602.2:c.2052+108_2052+109delinsAT NP_001077071.1:n.2052+108_2052+109delinsA...
NM_001083603.2:c.2247+108_2247+109delinsAT NP_001077072.1:n.2247+108_2247+109delinsA...
NM_001083604.2:c.1797+108_1797+109delinsAT NP_001077073.1:n.1797+108_1797+109delinsA...
NM_001083605.2:c.1797+108_1797+109delinsAT NP_001077074.1:n.1797+108_1797+109delinsA...
NM_001083606.2:c.1797+108_1797+109delinsAT NP_001077075.1:n.1797+108_1797+109delinsA...
NM_001083607.2:c.1797+108_1797+109delinsAT NP_001077076.1:n.1797+108_1797+109delinsA...
NM_001354918.1:c.2094+108_2094+109delinsAT NP_001341847.1:n.2094+108_2094+109delinsA...
NR_149061.1:n.2438+108_2438+109delinsAT
NM_000264.5:c.2250+108_2250+109delinsAT MANE Select NP_000255.2:n.2250+108_2250+109delinsAT
NM_001083606.3:c.1797+108_1797+109delinsAT NP_001077075.1:n.1797+108_1797+109delinsA...
NM_001354918.2:c.2094+108_2094+109delinsAT NP_001341847.1:n.2094+108_2094+109delinsA...
NR_149061.2:n.3155+108_3155+109delinsAT
NM_001083602.3:c.2052+108_2052+109delinsAT NP_001077071.1:n.2052+108_2052+109delinsA...
NM_001083603.3:c.2247+108_2247+109delinsAT MANE Plus Clinical NP_001077072.1:n.2247+108_2247+109delinsA...
NM_001083604.3:c.1797+108_1797+109delinsAT NP_001077073.1:n.1797+108_1797+109delinsA...
NM_001083605.3:c.1797+108_1797+109delinsAT NP_001077074.1:n.1797+108_1797+109delinsA...
NM_001083607.3:c.1797+108_1797+109delinsAT NP_001077076.1:n.1797+108_1797+109delinsA...