Canonical Allele Identifier: CA2509829434

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453639_95453640insGAAA , CM000671.2:g.95453639_95453640insGAAA	GRCh38
NC_000009.11:g.98215921_98215922insGAAA , CM000671.1:g.98215921_98215922insGAAA	GRCh37
NC_000009.10:g.97255742_97255743insGAAA	NCBI36
NG_007664.1:g.68326_68327insTTTC , LRG_515:g.68326_68327insTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3109-20_3109-19insTTTC	ENSP00000518556.1:n.3109-20_3109-19insTTTC
ENST00000437951.6:c.3304-20_3304-19insTTTC MANE Plus Clinical	ENSP00000389744.2:n.3304-20_3304-19insTTTC
ENST00000690194.1:c.*1615-20_*1615-19insTTTC	ENSP00000509379.1:n.*1615-20_*1615-19insTTTC
ENST00000692981.1:c.2854-20_2854-19insTTTC	ENSP00000510238.1:n.2854-20_2854-19insTTTC
ENST00000693534.1:n.638-20_638-19insTTTC
ENST00000331920.11:c.3307-20_3307-19insTTTC MANE Select	ENSP00000332353.6:n.3307-20_3307-19insTTTC
ENST00000331920.10:c.3307-20_3307-19insTTTC	ENSP00000332353.6:n.3307-20_3307-19insTTTC
ENST00000375274.6:c.3304-20_3304-19insTTTC	ENSP00000364423.2:n.3304-20_3304-19insTTTC
ENST00000375290.6:c.3076-20_3076-19insTTTC	ENSP00000364439.2:n.3076-20_3076-19insTTTC
ENST00000418258.5:c.2854-20_2854-19insTTTC	ENSP00000396135.1:n.2854-20_2854-19insTTTC
ENST00000421141.5:c.2854-20_2854-19insTTTC	ENSP00000399981.1:n.2854-20_2854-19insTTTC
ENST00000429896.6:c.2854-20_2854-19insTTTC	ENSP00000414823.2:n.2854-20_2854-19insTTTC
ENST00000430669.6:c.3109-20_3109-19insTTTC	ENSP00000410287.2:n.3109-20_3109-19insTTTC
ENST00000437951.5:c.3109-20_3109-19insTTTC	ENSP00000389744.1:n.3109-20_3109-19insTTTC
NM_000264.3:c.3307-20_3307-19insTTTC , LRG_515t1:c.3307-20_3307-19insTTTC	NP_000255.2:n.3307-20_3307-19insTTTC
NM_001083602.1:c.3109-20_3109-19insTTTC , LRG_515t2:c.3109-20_3109-19insTTTC	NP_001077071.1:n.3109-20_3109-19insTTTC
NM_001083603.1:c.3304-20_3304-19insTTTC	NP_001077072.1:n.3304-20_3304-19insTTTC
NM_001083604.1:c.2854-20_2854-19insTTTC	NP_001077073.1:n.2854-20_2854-19insTTTC
NM_001083605.1:c.2854-20_2854-19insTTTC	NP_001077074.1:n.2854-20_2854-19insTTTC
NM_001083606.1:c.2854-20_2854-19insTTTC	NP_001077075.1:n.2854-20_2854-19insTTTC
NM_001083607.1:c.2854-20_2854-19insTTTC	NP_001077076.1:n.2854-20_2854-19insTTTC
XM_005252102.2:c.2854-20_2854-19insTTTC	XP_005252159.1:n.2854-20_2854-19insTTTC
XM_011518868.1:c.3151-20_3151-19insTTTC	XP_011517170.1:n.3151-20_3151-19insTTTC
XM_011518869.1:c.2854-20_2854-19insTTTC	XP_011517171.1:n.2854-20_2854-19insTTTC
XM_011518870.1:c.2854-20_2854-19insTTTC	XP_011517172.1:n.2854-20_2854-19insTTTC
XM_011518871.1:c.2854-20_2854-19insTTTC	XP_011517173.1:n.2854-20_2854-19insTTTC
XM_011518872.1:c.2854-20_2854-19insTTTC	XP_011517174.1:n.2854-20_2854-19insTTTC
XM_011518873.1:c.2467-20_2467-19insTTTC	XP_011517175.1:n.2467-20_2467-19insTTTC
XM_011518874.1:c.3307-20_3307-19insTTTC	XP_011517176.1:n.3307-20_3307-19insTTTC
NM_000264.4:c.3307-20_3307-19insTTTC	NP_000255.2:n.3307-20_3307-19insTTTC
NM_001083602.2:c.3109-20_3109-19insTTTC	NP_001077071.1:n.3109-20_3109-19insTTTC
NM_001083603.2:c.3304-20_3304-19insTTTC	NP_001077072.1:n.3304-20_3304-19insTTTC
NM_001083604.2:c.2854-20_2854-19insTTTC	NP_001077073.1:n.2854-20_2854-19insTTTC
NM_001083605.2:c.2854-20_2854-19insTTTC	NP_001077074.1:n.2854-20_2854-19insTTTC
NM_001083606.2:c.2854-20_2854-19insTTTC	NP_001077075.1:n.2854-20_2854-19insTTTC
NM_001083607.2:c.2854-20_2854-19insTTTC	NP_001077076.1:n.2854-20_2854-19insTTTC
NM_001354918.1:c.3151-20_3151-19insTTTC	NP_001341847.1:n.3151-20_3151-19insTTTC
NR_149061.1:n.3329-20_3329-19insTTTC
NM_000264.5:c.3307-20_3307-19insTTTC MANE Select	NP_000255.2:n.3307-20_3307-19insTTTC
NM_001083606.3:c.2854-20_2854-19insTTTC	NP_001077075.1:n.2854-20_2854-19insTTTC
NM_001354918.2:c.3151-20_3151-19insTTTC	NP_001341847.1:n.3151-20_3151-19insTTTC
NR_149061.2:n.4046-20_4046-19insTTTC
NM_001083602.3:c.3109-20_3109-19insTTTC	NP_001077071.1:n.3109-20_3109-19insTTTC
NM_001083603.3:c.3304-20_3304-19insTTTC MANE Plus Clinical	NP_001077072.1:n.3304-20_3304-19insTTTC
NM_001083604.3:c.2854-20_2854-19insTTTC	NP_001077073.1:n.2854-20_2854-19insTTTC
NM_001083605.3:c.2854-20_2854-19insTTTC	NP_001077074.1:n.2854-20_2854-19insTTTC
NM_001083607.3:c.2854-20_2854-19insTTTC	NP_001077076.1:n.2854-20_2854-19insTTTC