Canonical Allele Identifier: CA16612827
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409150
ClinVar RCV Id: RCV000466769 RCV000492549
dbSNP Id: rs1060502273
MyVariant Identifiers: chr9:g.98215844_98215845del (hg19) chr9:g.95453562_95453563del (hg38)
PubMed: PMID:8981943
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95453562_95453563del , CM000671.2:g.95453562_95453563del GRCh38
NC_000009.11:g.98215844_98215845del , CM000671.1:g.98215844_98215845del GRCh37
NC_000009.10:g.97255665_97255666del NCBI36
NG_007664.1:g.68403_68404del , LRG_515:g.68403_68404del

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.3166_3167del ENSP00000518556.1:p.Met1056ValfsTer22
ENST00000437951.6:c.3361_3362del MANE Plus Clinical ENSP00000389744.2:p.Met1121ValfsTer22
ENST00000690194.1:c.*1672_*1673del ENSP00000509379.1:n.*1672_*1673del
ENST00000692981.1:c.2911_2912del ENSP00000510238.1:p.Met971ValfsTer22
ENST00000693534.1:n.695_696del
ENST00000331920.11:c.3364_3365del MANE Select ENSP00000332353.6:p.Met1122ValfsTer22
ENST00000331920.10:c.3364_3365del ENSP00000332353.6:p.Met1122ValfsTer22
ENST00000375274.6:c.3361_3362del ENSP00000364423.2:p.Met1121ValfsTer22
ENST00000375290.6:c.3133_3134del ENSP00000364439.2:n.3133_3134del
ENST00000418258.5:c.2911_2912del ENSP00000396135.1:p.Met971ValfsTer22
ENST00000421141.5:c.2911_2912del ENSP00000399981.1:p.Met971ValfsTer22
ENST00000429896.6:c.2911_2912del ENSP00000414823.2:p.Met971ValfsTer22
ENST00000430669.6:c.3166_3167del ENSP00000410287.2:p.Met1056ValfsTer22
ENST00000437951.5:c.3166_3167del ENSP00000389744.1:p.Met1056ValfsTer22
NM_000264.3:c.3364_3365del , LRG_515t1:c.3364_3365del NP_000255.2:p.Met1122ValfsTer22
NM_001083602.1:c.3166_3167del , LRG_515t2:c.3166_3167del NP_001077071.1:p.Met1056ValfsTer22
NM_001083603.1:c.3361_3362del NP_001077072.1:p.Met1121ValfsTer22
NM_001083604.1:c.2911_2912del NP_001077073.1:p.Met971ValfsTer22
NM_001083605.1:c.2911_2912del NP_001077074.1:p.Met971ValfsTer22
NM_001083606.1:c.2911_2912del NP_001077075.1:p.Met971ValfsTer22
NM_001083607.1:c.2911_2912del NP_001077076.1:p.Met971ValfsTer22
XM_005252102.2:c.2911_2912del XP_005252159.1:p.Met971ValfsTer22
XM_011518868.1:c.3208_3209del XP_011517170.1:p.Met1070ValfsTer22
XM_011518869.1:c.2911_2912del XP_011517171.1:p.Met971ValfsTer22
XM_011518870.1:c.2911_2912del XP_011517172.1:p.Met971ValfsTer22
XM_011518871.1:c.2911_2912del XP_011517173.1:p.Met971ValfsTer22
XM_011518872.1:c.2911_2912del XP_011517174.1:p.Met971ValfsTer22
XM_011518873.1:c.2524_2525del XP_011517175.1:p.Met842ValfsTer22
XM_011518874.1:c.3364_3365del XP_011517176.1:p.Met1122ValfsTer22
NM_000264.4:c.3364_3365del NP_000255.2:p.Met1122ValfsTer22
NM_001083602.2:c.3166_3167del NP_001077071.1:p.Met1056ValfsTer22
NM_001083603.2:c.3361_3362del NP_001077072.1:p.Met1121ValfsTer22
NM_001083604.2:c.2911_2912del NP_001077073.1:p.Met971ValfsTer22
NM_001083605.2:c.2911_2912del NP_001077074.1:p.Met971ValfsTer22
NM_001083606.2:c.2911_2912del NP_001077075.1:p.Met971ValfsTer22
NM_001083607.2:c.2911_2912del NP_001077076.1:p.Met971ValfsTer22
NM_001354918.1:c.3208_3209del NP_001341847.1:p.Met1070ValfsTer22
NR_149061.1:n.3386_3387del
NM_000264.5:c.3364_3365del MANE Select NP_000255.2:p.Met1122ValfsTer22
NM_001083606.3:c.2911_2912del NP_001077075.1:p.Met971ValfsTer22
NM_001354918.2:c.3208_3209del NP_001341847.1:p.Met1070ValfsTer22
NR_149061.2:n.4103_4104del
NM_001083602.3:c.3166_3167del NP_001077071.1:p.Met1056ValfsTer22
NM_001083603.3:c.3361_3362del MANE Plus Clinical NP_001077072.1:p.Met1121ValfsTer22
NM_001083604.3:c.2911_2912del NP_001077073.1:p.Met971ValfsTer22
NM_001083605.3:c.2911_2912del NP_001077074.1:p.Met971ValfsTer22
NM_001083607.3:c.2911_2912del NP_001077076.1:p.Met971ValfsTer22
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