Canonical Allele Identifier: CA891843290

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 571864
• ClinVar RCV Id: RCV000693113 ; RCV000722022
• dbSNP Id: rs1564032829
• MyVariant Identifiers: chr9:g.98231039del (hg19) ; chr9:g.95468757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95468760del , CM000671.2:g.95468760del	GRCh38
NC_000009.11:g.98231042del , CM000671.1:g.98231042del	GRCh37
NC_000009.10:g.97270863del	NCBI36
NG_007664.1:g.53209del , LRG_515:g.53209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.2046del	ENSP00000518556.1:p.Ala683ProfsTer3
ENST00000437951.6:c.2241del MANE Plus Clinical	ENSP00000389744.2:p.Ala748ProfsTer3
ENST00000690194.1:c.*552del	ENSP00000509379.1:n.*552del
ENST00000692981.1:c.1791del	ENSP00000510238.1:p.Ala598ProfsTer3
ENST00000331920.11:c.2244del MANE Select	ENSP00000332353.6:p.Ala749ProfsTer3
ENST00000331920.10:c.2244del	ENSP00000332353.6:p.Ala749ProfsTer3
ENST00000375274.6:c.2241del	ENSP00000364423.2:p.Ala748ProfsTer3
ENST00000375290.6:c.2013del	ENSP00000364439.2:n.2013del
ENST00000418258.5:c.1791del	ENSP00000396135.1:p.Ala598ProfsTer3
ENST00000421141.5:c.1791del	ENSP00000399981.1:p.Ala598ProfsTer3
ENST00000429896.6:c.1791del	ENSP00000414823.2:p.Ala598ProfsTer3
ENST00000430669.6:c.2046del	ENSP00000410287.2:p.Ala683ProfsTer3
ENST00000437951.5:c.2046del	ENSP00000389744.1:p.Ala683ProfsTer3
ENST00000549678.1:n.433del
NM_000264.3:c.2244del , LRG_515t1:c.2244del	NP_000255.2:p.Ala749ProfsTer3
NM_001083602.1:c.2046del , LRG_515t2:c.2046del	NP_001077071.1:p.Ala683ProfsTer3
NM_001083603.1:c.2241del	NP_001077072.1:p.Ala748ProfsTer3
NM_001083604.1:c.1791del	NP_001077073.1:p.Ala598ProfsTer3
NM_001083605.1:c.1791del	NP_001077074.1:p.Ala598ProfsTer3
NM_001083606.1:c.1791del	NP_001077075.1:p.Ala598ProfsTer3
NM_001083607.1:c.1791del	NP_001077076.1:p.Ala598ProfsTer3
NR_038982.1:n.698del
XM_005252102.2:c.1791del	XP_005252159.1:p.Ala598ProfsTer3
XM_011518868.1:c.2088del	XP_011517170.1:p.Ala697ProfsTer3
XM_011518869.1:c.1791del	XP_011517171.1:p.Ala598ProfsTer3
XM_011518870.1:c.1791del	XP_011517172.1:p.Ala598ProfsTer3
XM_011518871.1:c.1791del	XP_011517173.1:p.Ala598ProfsTer3
XM_011518872.1:c.1791del	XP_011517174.1:p.Ala598ProfsTer3
XM_011518873.1:c.1404del	XP_011517175.1:p.Ala469ProfsTer3
XM_011518874.1:c.2244del	XP_011517176.1:p.Ala749ProfsTer3
NM_000264.4:c.2244del	NP_000255.2:p.Ala749ProfsTer3
NM_001083602.2:c.2046del	NP_001077071.1:p.Ala683ProfsTer3
NM_001083603.2:c.2241del	NP_001077072.1:p.Ala748ProfsTer3
NM_001083604.2:c.1791del	NP_001077073.1:p.Ala598ProfsTer3
NM_001083605.2:c.1791del	NP_001077074.1:p.Ala598ProfsTer3
NM_001083606.2:c.1791del	NP_001077075.1:p.Ala598ProfsTer3
NM_001083607.2:c.1791del	NP_001077076.1:p.Ala598ProfsTer3
NM_001354918.1:c.2088del	NP_001341847.1:p.Ala697ProfsTer3
NR_149061.1:n.2432del
NM_000264.5:c.2244del MANE Select	NP_000255.2:p.Ala749ProfsTer3
NM_001083606.3:c.1791del	NP_001077075.1:p.Ala598ProfsTer3
NM_001354918.2:c.2088del	NP_001341847.1:p.Ala697ProfsTer3
NR_149061.2:n.3149del
NM_001083602.3:c.2046del	NP_001077071.1:p.Ala683ProfsTer3
NM_001083603.3:c.2241del MANE Plus Clinical	NP_001077072.1:p.Ala748ProfsTer3
NM_001083604.3:c.1791del	NP_001077073.1:p.Ala598ProfsTer3
NM_001083605.3:c.1791del	NP_001077074.1:p.Ala598ProfsTer3
NM_001083607.3:c.1791del	NP_001077076.1:p.Ala598ProfsTer3