Canonical Allele Identifier: CA1865624762
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95468639_95468640delinsGA , CM000671.2:g.95468639_95468640delinsGA GRCh38
NC_000009.11:g.98230921_98230922delinsGA , CM000671.1:g.98230921_98230922delinsGA GRCh37
NC_000009.10:g.97270742_97270743delinsGA NCBI36
NG_007664.1:g.53326_53327delinsTC , LRG_515:g.53326_53327delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.2052+111_2052+112delinsTC ENSP00000518556.1:n.2052+111_2052+112deli...
ENST00000437951.6:c.2247+111_2247+112delinsTC MANE Plus Clinical ENSP00000389744.2:n.2247+111_2247+112deli...
ENST00000690194.1:c.*558+111_*558+112delinsTC ENSP00000509379.1:n.*558+111_*558+112deli...
ENST00000692981.1:c.1797+111_1797+112delinsTC ENSP00000510238.1:n.1797+111_1797+112deli...
ENST00000331920.11:c.2250+111_2250+112delinsTC MANE Select ENSP00000332353.6:n.2250+111_2250+112deli...
ENST00000331920.10:c.2250+111_2250+112delinsTC ENSP00000332353.6:n.2250+111_2250+112deli...
ENST00000375274.6:c.2247+111_2247+112delinsTC ENSP00000364423.2:n.2247+111_2247+112deli...
ENST00000375290.6:c.2019+111_2019+112delinsTC ENSP00000364439.2:n.2019+111_2019+112deli...
ENST00000418258.5:c.1797+111_1797+112delinsTC ENSP00000396135.1:n.1797+111_1797+112deli...
ENST00000421141.5:c.1797+111_1797+112delinsTC ENSP00000399981.1:n.1797+111_1797+112deli...
ENST00000429896.6:c.1797+111_1797+112delinsTC ENSP00000414823.2:n.1797+111_1797+112deli...
ENST00000430669.6:c.2052+111_2052+112delinsTC ENSP00000410287.2:n.2052+111_2052+112deli...
ENST00000437951.5:c.2052+111_2052+112delinsTC ENSP00000389744.1:n.2052+111_2052+112deli...
ENST00000549678.1:n.439+111_439+112delinsTC
NM_000264.3:c.2250+111_2250+112delinsTC , LRG_515t1:c.2250+111_2250+112delinsTC NP_000255.2:n.2250+111_2250+112delinsTC
NM_001083602.1:c.2052+111_2052+112delinsTC , LRG_515t2:c.2052+111_2052+112delinsTC NP_001077071.1:n.2052+111_2052+112delinsT...
NM_001083603.1:c.2247+111_2247+112delinsTC NP_001077072.1:n.2247+111_2247+112delinsT...
NM_001083604.1:c.1797+111_1797+112delinsTC NP_001077073.1:n.1797+111_1797+112delinsT...
NM_001083605.1:c.1797+111_1797+112delinsTC NP_001077074.1:n.1797+111_1797+112delinsT...
NM_001083606.1:c.1797+111_1797+112delinsTC NP_001077075.1:n.1797+111_1797+112delinsT...
NM_001083607.1:c.1797+111_1797+112delinsTC NP_001077076.1:n.1797+111_1797+112delinsT...
NR_038982.1:n.597-20_597-19delinsGA
XM_005252102.2:c.1797+111_1797+112delinsTC XP_005252159.1:n.1797+111_1797+112delinsT...
XM_011518868.1:c.2094+111_2094+112delinsTC XP_011517170.1:n.2094+111_2094+112delinsT...
XM_011518869.1:c.1797+111_1797+112delinsTC XP_011517171.1:n.1797+111_1797+112delinsT...
XM_011518870.1:c.1797+111_1797+112delinsTC XP_011517172.1:n.1797+111_1797+112delinsT...
XM_011518871.1:c.1797+111_1797+112delinsTC XP_011517173.1:n.1797+111_1797+112delinsT...
XM_011518872.1:c.1797+111_1797+112delinsTC XP_011517174.1:n.1797+111_1797+112delinsT...
XM_011518873.1:c.1410+111_1410+112delinsTC XP_011517175.1:n.1410+111_1410+112delinsT...
XM_011518874.1:c.2250+111_2250+112delinsTC XP_011517176.1:n.2250+111_2250+112delinsT...
NM_000264.4:c.2250+111_2250+112delinsTC NP_000255.2:n.2250+111_2250+112delinsTC
NM_001083602.2:c.2052+111_2052+112delinsTC NP_001077071.1:n.2052+111_2052+112delinsT...
NM_001083603.2:c.2247+111_2247+112delinsTC NP_001077072.1:n.2247+111_2247+112delinsT...
NM_001083604.2:c.1797+111_1797+112delinsTC NP_001077073.1:n.1797+111_1797+112delinsT...
NM_001083605.2:c.1797+111_1797+112delinsTC NP_001077074.1:n.1797+111_1797+112delinsT...
NM_001083606.2:c.1797+111_1797+112delinsTC NP_001077075.1:n.1797+111_1797+112delinsT...
NM_001083607.2:c.1797+111_1797+112delinsTC NP_001077076.1:n.1797+111_1797+112delinsT...
NM_001354918.1:c.2094+111_2094+112delinsTC NP_001341847.1:n.2094+111_2094+112delinsT...
NR_149061.1:n.2438+111_2438+112delinsTC
NM_000264.5:c.2250+111_2250+112delinsTC MANE Select NP_000255.2:n.2250+111_2250+112delinsTC
NM_001083606.3:c.1797+111_1797+112delinsTC NP_001077075.1:n.1797+111_1797+112delinsT...
NM_001354918.2:c.2094+111_2094+112delinsTC NP_001341847.1:n.2094+111_2094+112delinsT...
NR_149061.2:n.3155+111_3155+112delinsTC
NM_001083602.3:c.2052+111_2052+112delinsTC NP_001077071.1:n.2052+111_2052+112delinsT...
NM_001083603.3:c.2247+111_2247+112delinsTC MANE Plus Clinical NP_001077072.1:n.2247+111_2247+112delinsT...
NM_001083604.3:c.1797+111_1797+112delinsTC NP_001077073.1:n.1797+111_1797+112delinsT...
NM_001083605.3:c.1797+111_1797+112delinsTC NP_001077074.1:n.1797+111_1797+112delinsT...
NM_001083607.3:c.1797+111_1797+112delinsTC NP_001077076.1:n.1797+111_1797+112delinsT...