Canonical Allele Identifier: CA1865624997

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95468756_95468757delinsCT , CM000671.2:g.95468756_95468757delinsCT	GRCh38
NC_000009.11:g.98231038_98231039delinsCT , CM000671.1:g.98231038_98231039delinsCT	GRCh37
NC_000009.10:g.97270859_97270860delinsCT	NCBI36
NG_007664.1:g.53209_53210delinsAG , LRG_515:g.53209_53210delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000711046.1:c.2046_2047delinsAG	ENSP00000518556.1:p.Lys682=
ENST00000437951.6:c.2241_2242delinsAG MANE Plus Clinical	ENSP00000389744.2:p.Lys747=
ENST00000690194.1:c.*552_*553delinsAG	ENSP00000509379.1:n.*552_*553delinsAG
ENST00000692981.1:c.1791_1792delinsAG	ENSP00000510238.1:p.Lys597=
ENST00000331920.11:c.2244_2245delinsAG MANE Select	ENSP00000332353.6:p.Lys748=
ENST00000331920.10:c.2244_2245delinsAG	ENSP00000332353.6:p.Lys748=
ENST00000375274.6:c.2241_2242delinsAG	ENSP00000364423.2:p.Lys747=
ENST00000375290.6:c.2013_2014delinsAG	ENSP00000364439.2:n.2013_2014delinsAG
ENST00000418258.5:c.1791_1792delinsAG	ENSP00000396135.1:p.Lys597=
ENST00000421141.5:c.1791_1792delinsAG	ENSP00000399981.1:p.Lys597=
ENST00000429896.6:c.1791_1792delinsAG	ENSP00000414823.2:p.Lys597=
ENST00000430669.6:c.2046_2047delinsAG	ENSP00000410287.2:p.Lys682=
ENST00000437951.5:c.2046_2047delinsAG	ENSP00000389744.1:p.Lys682=
ENST00000549678.1:n.433_434delinsAG
NM_000264.3:c.2244_2245delinsAG , LRG_515t1:c.2244_2245delinsAG	NP_000255.2:p.Lys748=
NM_001083602.1:c.2046_2047delinsAG , LRG_515t2:c.2046_2047delinsAG	NP_001077071.1:p.Lys682=
NM_001083603.1:c.2241_2242delinsAG	NP_001077072.1:p.Lys747=
NM_001083604.1:c.1791_1792delinsAG	NP_001077073.1:p.Lys597=
NM_001083605.1:c.1791_1792delinsAG	NP_001077074.1:p.Lys597=
NM_001083606.1:c.1791_1792delinsAG	NP_001077075.1:p.Lys597=
NM_001083607.1:c.1791_1792delinsAG	NP_001077076.1:p.Lys597=
NR_038982.1:n.694_695delinsCT
XM_005252102.2:c.1791_1792delinsAG	XP_005252159.1:p.Lys597=
XM_011518868.1:c.2088_2089delinsAG	XP_011517170.1:p.Lys696=
XM_011518869.1:c.1791_1792delinsAG	XP_011517171.1:p.Lys597=
XM_011518870.1:c.1791_1792delinsAG	XP_011517172.1:p.Lys597=
XM_011518871.1:c.1791_1792delinsAG	XP_011517173.1:p.Lys597=
XM_011518872.1:c.1791_1792delinsAG	XP_011517174.1:p.Lys597=
XM_011518873.1:c.1404_1405delinsAG	XP_011517175.1:p.Lys468=
XM_011518874.1:c.2244_2245delinsAG	XP_011517176.1:p.Lys748=
NM_000264.4:c.2244_2245delinsAG	NP_000255.2:p.Lys748=
NM_001083602.2:c.2046_2047delinsAG	NP_001077071.1:p.Lys682=
NM_001083603.2:c.2241_2242delinsAG	NP_001077072.1:p.Lys747=
NM_001083604.2:c.1791_1792delinsAG	NP_001077073.1:p.Lys597=
NM_001083605.2:c.1791_1792delinsAG	NP_001077074.1:p.Lys597=
NM_001083606.2:c.1791_1792delinsAG	NP_001077075.1:p.Lys597=
NM_001083607.2:c.1791_1792delinsAG	NP_001077076.1:p.Lys597=
NM_001354918.1:c.2088_2089delinsAG	NP_001341847.1:p.Lys696=
NR_149061.1:n.2432_2433delinsAG
NM_000264.5:c.2244_2245delinsAG MANE Select	NP_000255.2:p.Lys748=
NM_001083606.3:c.1791_1792delinsAG	NP_001077075.1:p.Lys597=
NM_001354918.2:c.2088_2089delinsAG	NP_001341847.1:p.Lys696=
NR_149061.2:n.3149_3150delinsAG
NM_001083602.3:c.2046_2047delinsAG	NP_001077071.1:p.Lys682=
NM_001083603.3:c.2241_2242delinsAG MANE Plus Clinical	NP_001077072.1:p.Lys747=
NM_001083604.3:c.1791_1792delinsAG	NP_001077073.1:p.Lys597=
NM_001083605.3:c.1791_1792delinsAG	NP_001077074.1:p.Lys597=
NM_001083607.3:c.1791_1792delinsAG	NP_001077076.1:p.Lys597=