Canonical Allele Identifier: CA589581092

Gene: PTCH1

Linked Data

• dbSNP Id: rs1309032141
• gnomAD v2: 9-98244567-AAAG-A
• gnomAD v3: 9-95482285-AAAG-A
• gnomAD v4: 9-95482285-AAAG-A
• MyVariant Identifiers: chr9:g.98244568_98244570del (hg19) ; chr9:g.95482286_95482288del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482288_95482290del , CM000671.2:g.95482288_95482290del	GRCh38
NC_000009.11:g.98244570_98244572del , CM000671.1:g.98244570_98244572del	GRCh37
NC_000009.10:g.97284391_97284393del	NCBI36
NG_007664.1:g.39678_39680del , LRG_515:g.39678_39680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.387-85_387-83del	ENSP00000518556.1:n.387-85_387-83del
ENST00000437951.6:c.582-85_582-83del MANE Plus Clinical	ENSP00000389744.2:n.582-85_582-83del
ENST00000690194.1:c.132-85_132-83del	ENSP00000509379.1:n.132-85_132-83del
ENST00000692981.1:c.132-85_132-83del	ENSP00000510238.1:n.132-85_132-83del
ENST00000331920.11:c.585-85_585-83del MANE Select	ENSP00000332353.6:n.585-85_585-83del
ENST00000331920.10:c.585-85_585-83del	ENSP00000332353.6:n.585-85_585-83del
ENST00000375274.6:c.582-85_582-83del	ENSP00000364423.2:n.582-85_582-83del
ENST00000375290.6:c.384-1700_384-1698del	ENSP00000364439.2:n.384-1700_384-1698del
ENST00000418258.5:c.132-85_132-83del	ENSP00000396135.1:n.132-85_132-83del
ENST00000421141.5:c.132-85_132-83del	ENSP00000399981.1:n.132-85_132-83del
ENST00000429896.6:c.132-85_132-83del	ENSP00000414823.2:n.132-85_132-83del
ENST00000430669.6:c.387-85_387-83del	ENSP00000410287.2:n.387-85_387-83del
ENST00000437951.5:c.387-85_387-83del	ENSP00000389744.1:n.387-85_387-83del
ENST00000468211.6:c.387-85_387-83del	ENSP00000449745.1:n.387-85_387-83del
ENST00000546820.5:c.132-85_132-83del	ENSP00000448843.1:n.132-85_132-83del
ENST00000547672.5:c.132-85_132-83del	ENSP00000447878.1:n.132-85_132-83del
ENST00000548379.5:n.238-85_238-83del
ENST00000548420.1:c.-94-1700_-94-1698del	ENSP00000449078.1:n.-94-1700_-94-1698del
ENST00000548945.6:n.194-1700_194-1698del
ENST00000550136.1:n.2022_2024del
ENST00000550914.6:c.132-50_132-48del	ENSP00000450047.1:n.132-50_132-48del
ENST00000551623.1:c.227-85_227-83del	ENSP00000447242.1:n.227-85_227-83del
ENST00000551630.1:c.132-85_132-83del	ENSP00000450131.1:n.132-85_132-83del
ENST00000551845.5:c.132-85_132-83del	ENSP00000447008.1:n.132-85_132-83del
ENST00000553011.5:c.132-85_132-83del	ENSP00000447797.1:n.132-85_132-83del
ENST00000553256.5:n.331-85_331-83del
NM_000264.3:c.585-85_585-83del , LRG_515t1:c.585-85_585-83del	NP_000255.2:n.585-85_585-83del
NM_001083602.1:c.387-85_387-83del , LRG_515t2:c.387-85_387-83del	NP_001077071.1:n.387-85_387-83del
NM_001083603.1:c.582-85_582-83del	NP_001077072.1:n.582-85_582-83del
NM_001083604.1:c.132-85_132-83del	NP_001077073.1:n.132-85_132-83del
NM_001083605.1:c.132-85_132-83del	NP_001077074.1:n.132-85_132-83del
NM_001083606.1:c.132-85_132-83del	NP_001077075.1:n.132-85_132-83del
NM_001083607.1:c.132-85_132-83del	NP_001077076.1:n.132-85_132-83del
XM_005252102.2:c.132-85_132-83del	XP_005252159.1:n.132-85_132-83del
XM_011518868.1:c.585-85_585-83del	XP_011517170.1:n.585-85_585-83del
XM_011518869.1:c.132-85_132-83del	XP_011517171.1:n.132-85_132-83del
XM_011518870.1:c.132-85_132-83del	XP_011517172.1:n.132-85_132-83del
XM_011518871.1:c.132-85_132-83del	XP_011517173.1:n.132-85_132-83del
XM_011518872.1:c.132-85_132-83del	XP_011517174.1:n.132-85_132-83del
XM_011518873.1:c.-94-1700_-94-1698del	XP_011517175.1:n.-94-1700_-94-1698del
XM_011518874.1:c.585-85_585-83del	XP_011517176.1:n.585-85_585-83del
NM_000264.4:c.585-85_585-83del	NP_000255.2:n.585-85_585-83del
NM_001083602.2:c.387-85_387-83del	NP_001077071.1:n.387-85_387-83del
NM_001083603.2:c.582-85_582-83del	NP_001077072.1:n.582-85_582-83del
NM_001083604.2:c.132-85_132-83del	NP_001077073.1:n.132-85_132-83del
NM_001083605.2:c.132-85_132-83del	NP_001077074.1:n.132-85_132-83del
NM_001083606.2:c.132-85_132-83del	NP_001077075.1:n.132-85_132-83del
NM_001083607.2:c.132-85_132-83del	NP_001077076.1:n.132-85_132-83del
NM_001354918.1:c.585-85_585-83del	NP_001341847.1:n.585-85_585-83del
NM_001354919.1:c.387-85_387-83del	NP_001341848.1:n.387-85_387-83del
NR_149061.1:n.773-85_773-83del
NM_000264.5:c.585-85_585-83del MANE Select	NP_000255.2:n.585-85_585-83del
NM_001083606.3:c.132-85_132-83del	NP_001077075.1:n.132-85_132-83del
NM_001354918.2:c.585-85_585-83del	NP_001341847.1:n.585-85_585-83del
NR_149061.2:n.1490-85_1490-83del
NM_001083602.3:c.387-85_387-83del	NP_001077071.1:n.387-85_387-83del
NM_001083603.3:c.582-85_582-83del MANE Plus Clinical	NP_001077072.1:n.582-85_582-83del
NM_001083604.3:c.132-85_132-83del	NP_001077073.1:n.132-85_132-83del
NM_001083605.3:c.132-85_132-83del	NP_001077074.1:n.132-85_132-83del
NM_001083607.3:c.132-85_132-83del	NP_001077076.1:n.132-85_132-83del
NM_001354919.2:c.387-85_387-83del	NP_001341848.1:n.387-85_387-83del