Canonical Allele Identifier: CA16618911
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422218
ClinVar RCV Id: RCV000479558
dbSNP Id: rs1064795637
MyVariant Identifiers: chr9:g.98242666_98242669del (hg19) chr9:g.95480384_95480387del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95480387_95480390del , CM000671.2:g.95480387_95480390del GRCh38
NC_000009.11:g.98242669_98242672del , CM000671.1:g.98242669_98242672del GRCh37
NC_000009.10:g.97282490_97282493del NCBI36
NG_007664.1:g.41579_41582del , LRG_515:g.41579_41582del

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.747+3_747+6del
ENST00000437951.6:c.942+3_942+6del
ENST00000690194.1:c.492+3_492+6del
ENST00000692981.1:c.492+3_492+6del
ENST00000331920.11:c.945+3_945+6del
ENST00000331920.10:c.945+3_945+6del
ENST00000375271.4:c.96+3_96+6del
ENST00000375274.6:c.942+3_942+6del
ENST00000375290.6:c.582+3_582+6del
ENST00000418258.5:c.492+3_492+6del
ENST00000421141.5:c.492+3_492+6del
ENST00000429896.6:c.492+3_492+6del
ENST00000430669.6:c.747+3_747+6del
ENST00000437951.5:c.747+3_747+6del
ENST00000488809.2:n.66+3_66+6del
ENST00000546820.5:c.492+3_492+6del
ENST00000547672.5:c.492+3_492+6del
ENST00000548420.1:c.105+3_105+6del
ENST00000551845.5:c.492+3_492+6del
ENST00000553011.5:c.492+3_492+6del
NM_000264.3:c.945+3_945+6del , LRG_515t1:c.945+3_945+6del
NM_001083602.1:c.747+3_747+6del , LRG_515t2:c.747+3_747+6del
NM_001083603.1:c.942+3_942+6del
NM_001083604.1:c.492+3_492+6del
NM_001083605.1:c.492+3_492+6del
NM_001083606.1:c.492+3_492+6del
NM_001083607.1:c.492+3_492+6del
XM_005252102.2:c.492+3_492+6del
XM_011518868.1:c.945+3_945+6del
XM_011518869.1:c.492+3_492+6del
XM_011518870.1:c.492+3_492+6del
XM_011518871.1:c.492+3_492+6del
XM_011518872.1:c.492+3_492+6del
XM_011518873.1:c.105+3_105+6del
XM_011518874.1:c.945+3_945+6del
NM_000264.4:c.945+3_945+6del
NM_001083602.2:c.747+3_747+6del
NM_001083603.2:c.942+3_942+6del
NM_001083604.2:c.492+3_492+6del
NM_001083605.2:c.492+3_492+6del
NM_001083606.2:c.492+3_492+6del
NM_001083607.2:c.492+3_492+6del
NM_001354918.1:c.945+3_945+6del
NR_149061.1:n.1133+3_1133+6del
NM_000264.5:c.945+3_945+6del
NM_001083606.3:c.492+3_492+6del
NM_001354918.2:c.945+3_945+6del
NR_149061.2:n.1850+3_1850+6del
NM_001083602.3:c.747+3_747+6del
NM_001083603.3:c.942+3_942+6del
NM_001083604.3:c.492+3_492+6del
NM_001083605.3:c.492+3_492+6del
NM_001083607.3:c.492+3_492+6del
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