Canonical Allele Identifier: CA16618905
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419178
ClinVar RCV Id: RCV000483987
dbSNP Id: rs1064793698

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95468928_95468929del , CM000671.2:g.95468928_95468929del GRCh38
NC_000009.11:g.98231210_98231211del , CM000671.1:g.98231210_98231211del GRCh37
NC_000009.10:g.97271031_97271032del NCBI36
NG_007664.1:g.53037_53038del , LRG_515:g.53037_53038del

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.1874_1875del ENSP00000518556.1:p.Thr625SerfsTer?
ENST00000437951.6:c.2069_2070del MANE Plus Clinical ENSP00000389744.2:p.Thr690SerfsTer?
ENST00000690194.1:c.*380_*381del ENSP00000509379.1:n.*380_*381del
ENST00000692981.1:c.1619_1620del ENSP00000510238.1:p.Thr540SerfsTer?
ENST00000331920.11:c.2072_2073del MANE Select ENSP00000332353.6:p.Thr691SerfsTer?
ENST00000331920.10:c.2072_2073del ENSP00000332353.6:p.Thr691SerfsTer?
ENST00000375274.6:c.2069_2070del ENSP00000364423.2:p.Thr690SerfsTer?
ENST00000375290.6:c.1841_1842del ENSP00000364439.2:n.1841_1842del
ENST00000418258.5:c.1619_1620del ENSP00000396135.1:p.Thr540SerfsTer?
ENST00000421141.5:c.1619_1620del ENSP00000399981.1:p.Thr540SerfsTer?
ENST00000429896.6:c.1619_1620del ENSP00000414823.2:p.Thr540SerfsTer?
ENST00000430669.6:c.1874_1875del ENSP00000410287.2:p.Thr625SerfsTer?
ENST00000437951.5:c.1874_1875del ENSP00000389744.1:p.Thr625SerfsTer?
ENST00000549678.1:n.261_262del
NM_000264.3:c.2072_2073del , LRG_515t1:c.2072_2073del NP_000255.2:p.Thr691SerfsTer?
NM_001083602.1:c.1874_1875del , LRG_515t2:c.1874_1875del NP_001077071.1:p.Thr625SerfsTer?
NM_001083603.1:c.2069_2070del NP_001077072.1:p.Thr690SerfsTer?
NM_001083604.1:c.1619_1620del NP_001077073.1:p.Thr540SerfsTer?
NM_001083605.1:c.1619_1620del NP_001077074.1:p.Thr540SerfsTer?
NM_001083606.1:c.1619_1620del NP_001077075.1:p.Thr540SerfsTer?
NM_001083607.1:c.1619_1620del NP_001077076.1:p.Thr540SerfsTer?
NR_038982.1:n.866_867del
XM_005252102.2:c.1619_1620del XP_005252159.1:p.Thr540SerfsTer?
XM_011518868.1:c.1916_1917del XP_011517170.1:p.Thr639SerfsTer?
XM_011518869.1:c.1619_1620del XP_011517171.1:p.Thr540SerfsTer?
XM_011518870.1:c.1619_1620del XP_011517172.1:p.Thr540SerfsTer?
XM_011518871.1:c.1619_1620del XP_011517173.1:p.Thr540SerfsTer?
XM_011518872.1:c.1619_1620del XP_011517174.1:p.Thr540SerfsTer?
XM_011518873.1:c.1232_1233del XP_011517175.1:p.Thr411SerfsTer?
XM_011518874.1:c.2072_2073del XP_011517176.1:p.Thr691SerfsTer?
NM_000264.4:c.2072_2073del NP_000255.2:p.Thr691SerfsTer?
NM_001083602.2:c.1874_1875del NP_001077071.1:p.Thr625SerfsTer?
NM_001083603.2:c.2069_2070del NP_001077072.1:p.Thr690SerfsTer?
NM_001083604.2:c.1619_1620del NP_001077073.1:p.Thr540SerfsTer?
NM_001083605.2:c.1619_1620del NP_001077074.1:p.Thr540SerfsTer?
NM_001083606.2:c.1619_1620del NP_001077075.1:p.Thr540SerfsTer?
NM_001083607.2:c.1619_1620del NP_001077076.1:p.Thr540SerfsTer?
NM_001354918.1:c.1916_1917del NP_001341847.1:p.Thr639SerfsTer?
NR_149061.1:n.2260_2261del
NM_000264.5:c.2072_2073del MANE Select NP_000255.2:p.Thr691SerfsTer?
NM_001083606.3:c.1619_1620del NP_001077075.1:p.Thr540SerfsTer?
NM_001354918.2:c.1916_1917del NP_001341847.1:p.Thr639SerfsTer?
NR_149061.2:n.2977_2978del
NM_001083602.3:c.1874_1875del NP_001077071.1:p.Thr625SerfsTer?
NM_001083603.3:c.2069_2070del MANE Plus Clinical NP_001077072.1:p.Thr690SerfsTer?
NM_001083604.3:c.1619_1620del NP_001077073.1:p.Thr540SerfsTer?
NM_001083605.3:c.1619_1620del NP_001077074.1:p.Thr540SerfsTer?
NM_001083607.3:c.1619_1620del NP_001077076.1:p.Thr540SerfsTer?