Canonical Allele Identifier: CA2695210897
Community Standard Title: NM_000264.5(PTCH1):c.705dup (p.Trp236LeufsTer16)
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95481990dup , CM000671.2:g.95481990dup GRCh38
NC_000009.11:g.98244272dup , CM000671.1:g.98244272dup GRCh37
NC_000009.10:g.97284093dup NCBI36
NG_007664.1:g.39976dup , LRG_515:g.39976dup

Transcript Alleles

HGVS Amino-acid Change
NM_000264.5:c.705dup MANE Select NP_000255.2:p.Trp236LeufsTer16
ENST00000331920.11:c.705dup MANE Select ENSP00000332353.6:p.Trp236LeufsTer16
NM_001083603.3:c.702dup MANE Plus Clinical NP_001077072.1:p.Trp235LeufsTer16
ENST00000437951.6:c.702dup MANE Plus Clinical ENSP00000389744.2:p.Trp235LeufsTer16
NM_000264.3:c.705dup , LRG_515t1:c.705dup NP_000255.2:p.Trp236LeufsTer16
NM_000264.4:c.705dup NP_000255.2:p.Trp236LeufsTer16
NM_001083602.1:c.507dup , LRG_515t2:c.507dup NP_001077071.1:p.Trp170LeufsTer16
NM_001083602.2:c.507dup NP_001077071.1:p.Trp170LeufsTer16
NM_001083602.3:c.507dup NP_001077071.1:p.Trp170LeufsTer16
NM_001083603.1:c.702dup NP_001077072.1:p.Trp235LeufsTer16
NM_001083603.2:c.702dup NP_001077072.1:p.Trp235LeufsTer16
NM_001083604.1:c.252dup NP_001077073.1:p.Trp85LeufsTer16
NM_001083604.2:c.252dup NP_001077073.1:p.Trp85LeufsTer16
NM_001083604.3:c.252dup NP_001077073.1:p.Trp85LeufsTer16
NM_001083605.1:c.252dup NP_001077074.1:p.Trp85LeufsTer16
NM_001083605.2:c.252dup NP_001077074.1:p.Trp85LeufsTer16
NM_001083605.3:c.252dup NP_001077074.1:p.Trp85LeufsTer16
NM_001083606.1:c.252dup NP_001077075.1:p.Trp85LeufsTer16
NM_001083606.2:c.252dup NP_001077075.1:p.Trp85LeufsTer16
NM_001083606.3:c.252dup NP_001077075.1:p.Trp85LeufsTer16
NM_001083607.1:c.252dup NP_001077076.1:p.Trp85LeufsTer16
NM_001083607.2:c.252dup NP_001077076.1:p.Trp85LeufsTer16
NM_001083607.3:c.252dup NP_001077076.1:p.Trp85LeufsTer16
NM_001354918.1:c.705dup NP_001341847.1:p.Trp236LeufsTer16
NM_001354918.2:c.705dup NP_001341847.1:p.Trp236LeufsTer16
NM_001354919.1:c.507dup NP_001341848.1:p.Trp170LeufsTer18
NM_001354919.2:c.507dup NP_001341848.1:p.Trp170LeufsTer18
NR_149061.1:n.893dup
NR_149061.2:n.1610dup
ENST00000331920.10:c.705dup ENSP00000332353.6:p.Trp236LeufsTer16
ENST00000375274.6:c.702dup ENSP00000364423.2:p.Trp235LeufsTer16
ENST00000375290.6:c.384-1402dup ENSP00000364439.2:n.384-1402dup
ENST00000418258.5:c.252dup ENSP00000396135.1:p.Trp85LeufsTer16
ENST00000421141.5:c.252dup ENSP00000399981.1:p.Trp85LeufsTer16
ENST00000429896.6:c.252dup ENSP00000414823.2:p.Trp85LeufsTer16
ENST00000430669.6:c.507dup ENSP00000410287.2:p.Trp170LeufsTer16
ENST00000437951.5:c.507dup ENSP00000389744.1:p.Trp170LeufsTer16
ENST00000468211.6:c.507dup ENSP00000449745.1:p.Trp170LeufsTer18
ENST00000546820.5:c.252dup ENSP00000448843.1:p.Trp85LeufsTer16
ENST00000547672.5:c.252dup ENSP00000447878.1:p.Trp85LeufsTer16
ENST00000548379.5:n.358dup
ENST00000548420.1:c.-94-1402dup ENSP00000449078.1:n.-94-1402dup
ENST00000548945.6:n.194-1402dup
ENST00000550136.1:n.2227dup
ENST00000550914.6:c.*47dup ENSP00000450047.1:n.*47dup
ENST00000551623.1:c.347dup ENSP00000447242.1:n.347dup
ENST00000551630.1:c.252dup ENSP00000450131.1:p.Trp85LeufsTer?
ENST00000551845.5:c.252dup ENSP00000447008.1:p.Trp85LeufsTer16
ENST00000553011.5:c.252dup ENSP00000447797.1:p.Trp85LeufsTer16
ENST00000553256.5:n.451dup
ENST00000690194.1:c.252dup ENSP00000509379.1:p.Trp85LeufsTer16
ENST00000692981.1:c.252dup ENSP00000510238.1:p.Trp85LeufsTer16
ENST00000711046.1:c.507dup ENSP00000518556.1:p.Trp170LeufsTer16
XM_005252102.2:c.252dup XP_005252159.1:p.Trp85LeufsTer16
XM_011518868.1:c.705dup XP_011517170.1:p.Trp236LeufsTer16
XM_011518869.1:c.252dup XP_011517171.1:p.Trp85LeufsTer16
XM_011518870.1:c.252dup XP_011517172.1:p.Trp85LeufsTer16
XM_011518871.1:c.252dup XP_011517173.1:p.Trp85LeufsTer16
XM_011518872.1:c.252dup XP_011517174.1:p.Trp85LeufsTer16
XM_011518873.1:c.-94-1402dup XP_011517175.1:n.-94-1402dup
XM_011518874.1:c.705dup XP_011517176.1:p.Trp236LeufsTer16