Canonical Allele Identifier: CA1126985416

Gene: PTCH1

Linked Data

• dbSNP Id: rs1841602935
• gnomAD v3: 9-95482253-T-TTAGTGCAAATTCGAAATGATAGAACATATAAAAAGAACTGCAATTTCGATCACTTTTAAGCATCTGTCAAAACGAGCAGAGCTTTTGC
• gnomAD v4: 9-95482253-T-TTAGTGCAAATTCGAAATGATAGAACATATAAAAAGAACTGCAATTTCGATCACTTTTAAGCATCTGTCAAAACGAGCAGAGCTTTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482254_95482341dup , CM000671.2:g.95482254_95482341dup	GRCh38
NC_000009.11:g.98244536_98244623dup , CM000671.1:g.98244536_98244623dup	GRCh37
NC_000009.10:g.97284357_97284444dup	NCBI36
NG_007664.1:g.39625_39712dup , LRG_515:g.39625_39712dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.387-138_387-51dup	ENSP00000518556.1:n.387-138_387-51dup
ENST00000437951.6:c.582-138_582-51dup MANE Plus Clinical	ENSP00000389744.2:n.582-138_582-51dup
ENST00000690194.1:c.132-138_132-51dup	ENSP00000509379.1:n.132-138_132-51dup
ENST00000692981.1:c.132-138_132-51dup	ENSP00000510238.1:n.132-138_132-51dup
ENST00000331920.11:c.585-138_585-51dup MANE Select	ENSP00000332353.6:n.585-138_585-51dup
ENST00000331920.10:c.585-138_585-51dup	ENSP00000332353.6:n.585-138_585-51dup
ENST00000375274.6:c.582-138_582-51dup	ENSP00000364423.2:n.582-138_582-51dup
ENST00000375290.6:c.384-1753_384-1666dup	ENSP00000364439.2:n.384-1753_384-1666dup
ENST00000418258.5:c.132-138_132-51dup	ENSP00000396135.1:n.132-138_132-51dup
ENST00000421141.5:c.132-138_132-51dup	ENSP00000399981.1:n.132-138_132-51dup
ENST00000429896.6:c.132-138_132-51dup	ENSP00000414823.2:n.132-138_132-51dup
ENST00000430669.6:c.387-138_387-51dup	ENSP00000410287.2:n.387-138_387-51dup
ENST00000437951.5:c.387-138_387-51dup	ENSP00000389744.1:n.387-138_387-51dup
ENST00000468211.6:c.387-138_387-51dup	ENSP00000449745.1:n.387-138_387-51dup
ENST00000546820.5:c.132-138_132-51dup	ENSP00000448843.1:n.132-138_132-51dup
ENST00000547672.5:c.132-138_132-51dup	ENSP00000447878.1:n.132-138_132-51dup
ENST00000548379.5:n.238-138_238-51dup
ENST00000548420.1:c.-94-1753_-94-1666dup	ENSP00000449078.1:n.-94-1753_-94-1666dup
ENST00000548945.6:n.194-1753_194-1666dup
ENST00000550136.1:n.1969_2056dup
ENST00000550914.6:c.132-103_132-16dup	ENSP00000450047.1:n.132-103_132-16dup
ENST00000551623.1:c.227-138_227-51dup	ENSP00000447242.1:n.227-138_227-51dup
ENST00000551630.1:c.132-138_132-51dup	ENSP00000450131.1:n.132-138_132-51dup
ENST00000551845.5:c.132-138_132-51dup	ENSP00000447008.1:n.132-138_132-51dup
ENST00000553011.5:c.132-138_132-51dup	ENSP00000447797.1:n.132-138_132-51dup
ENST00000553256.5:n.331-138_331-51dup
NM_000264.3:c.585-138_585-51dup , LRG_515t1:c.585-138_585-51dup	NP_000255.2:n.585-138_585-51dup
NM_001083602.1:c.387-138_387-51dup , LRG_515t2:c.387-138_387-51dup	NP_001077071.1:n.387-138_387-51dup
NM_001083603.1:c.582-138_582-51dup	NP_001077072.1:n.582-138_582-51dup
NM_001083604.1:c.132-138_132-51dup	NP_001077073.1:n.132-138_132-51dup
NM_001083605.1:c.132-138_132-51dup	NP_001077074.1:n.132-138_132-51dup
NM_001083606.1:c.132-138_132-51dup	NP_001077075.1:n.132-138_132-51dup
NM_001083607.1:c.132-138_132-51dup	NP_001077076.1:n.132-138_132-51dup
XM_005252102.2:c.132-138_132-51dup	XP_005252159.1:n.132-138_132-51dup
XM_011518868.1:c.585-138_585-51dup	XP_011517170.1:n.585-138_585-51dup
XM_011518869.1:c.132-138_132-51dup	XP_011517171.1:n.132-138_132-51dup
XM_011518870.1:c.132-138_132-51dup	XP_011517172.1:n.132-138_132-51dup
XM_011518871.1:c.132-138_132-51dup	XP_011517173.1:n.132-138_132-51dup
XM_011518872.1:c.132-138_132-51dup	XP_011517174.1:n.132-138_132-51dup
XM_011518873.1:c.-94-1753_-94-1666dup	XP_011517175.1:n.-94-1753_-94-1666dup
XM_011518874.1:c.585-138_585-51dup	XP_011517176.1:n.585-138_585-51dup
NM_000264.4:c.585-138_585-51dup	NP_000255.2:n.585-138_585-51dup
NM_001083602.2:c.387-138_387-51dup	NP_001077071.1:n.387-138_387-51dup
NM_001083603.2:c.582-138_582-51dup	NP_001077072.1:n.582-138_582-51dup
NM_001083604.2:c.132-138_132-51dup	NP_001077073.1:n.132-138_132-51dup
NM_001083605.2:c.132-138_132-51dup	NP_001077074.1:n.132-138_132-51dup
NM_001083606.2:c.132-138_132-51dup	NP_001077075.1:n.132-138_132-51dup
NM_001083607.2:c.132-138_132-51dup	NP_001077076.1:n.132-138_132-51dup
NM_001354918.1:c.585-138_585-51dup	NP_001341847.1:n.585-138_585-51dup
NM_001354919.1:c.387-138_387-51dup	NP_001341848.1:n.387-138_387-51dup
NR_149061.1:n.773-138_773-51dup
NM_000264.5:c.585-138_585-51dup MANE Select	NP_000255.2:n.585-138_585-51dup
NM_001083606.3:c.132-138_132-51dup	NP_001077075.1:n.132-138_132-51dup
NM_001354918.2:c.585-138_585-51dup	NP_001341847.1:n.585-138_585-51dup
NR_149061.2:n.1490-138_1490-51dup
NM_001083602.3:c.387-138_387-51dup	NP_001077071.1:n.387-138_387-51dup
NM_001083603.3:c.582-138_582-51dup MANE Plus Clinical	NP_001077072.1:n.582-138_582-51dup
NM_001083604.3:c.132-138_132-51dup	NP_001077073.1:n.132-138_132-51dup
NM_001083605.3:c.132-138_132-51dup	NP_001077074.1:n.132-138_132-51dup
NM_001083607.3:c.132-138_132-51dup	NP_001077076.1:n.132-138_132-51dup
NM_001354919.2:c.387-138_387-51dup	NP_001341848.1:n.387-138_387-51dup