Canonical Allele Identifier: CA2695239792

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95477699_95477700delinsTT , CM000671.2:g.95477699_95477700delinsTT	GRCh38
NC_000009.11:g.98239981_98239982delinsTT , CM000671.1:g.98239981_98239982delinsTT	GRCh37
NC_000009.10:g.97279802_97279803delinsTT	NCBI36
NG_007664.1:g.44266_44267delinsAA , LRG_515:g.44266_44267delinsAA

Transcript Alleles

HGVS	Amino-acid Change
NM_000264.5:c.1350_1351delinsAA MANE Select	NP_000255.2:p.Ala451Thr
ENST00000331920.11:c.1350_1351delinsAA MANE Select	ENSP00000332353.6:p.Ala451Thr
NM_001083603.3:c.1347_1348delinsAA MANE Plus Clinical	NP_001077072.1:p.Ala450Thr
ENST00000437951.6:c.1347_1348delinsAA MANE Plus Clinical	ENSP00000389744.2:p.Ala450Thr
NM_000264.3:c.1350_1351delinsAA , LRG_515t1:c.1350_1351delinsAA	NP_000255.2:p.Ala451Thr
NM_000264.4:c.1350_1351delinsAA	NP_000255.2:p.Ala451Thr
NM_001083602.1:c.1152_1153delinsAA , LRG_515t2:c.1152_1153delinsAA	NP_001077071.1:p.Ala385Thr
NM_001083602.2:c.1152_1153delinsAA	NP_001077071.1:p.Ala385Thr
NM_001083602.3:c.1152_1153delinsAA	NP_001077071.1:p.Ala385Thr
NM_001083603.1:c.1347_1348delinsAA	NP_001077072.1:p.Ala450Thr
NM_001083603.2:c.1347_1348delinsAA	NP_001077072.1:p.Ala450Thr
NM_001083604.1:c.897_898delinsAA	NP_001077073.1:p.Ala300Thr
NM_001083604.2:c.897_898delinsAA	NP_001077073.1:p.Ala300Thr
NM_001083604.3:c.897_898delinsAA	NP_001077073.1:p.Ala300Thr
NM_001083605.1:c.897_898delinsAA	NP_001077074.1:p.Ala300Thr
NM_001083605.2:c.897_898delinsAA	NP_001077074.1:p.Ala300Thr
NM_001083605.3:c.897_898delinsAA	NP_001077074.1:p.Ala300Thr
NM_001083606.1:c.897_898delinsAA	NP_001077075.1:p.Ala300Thr
NM_001083606.2:c.897_898delinsAA	NP_001077075.1:p.Ala300Thr
NM_001083606.3:c.897_898delinsAA	NP_001077075.1:p.Ala300Thr
NM_001083607.1:c.897_898delinsAA	NP_001077076.1:p.Ala300Thr
NM_001083607.2:c.897_898delinsAA	NP_001077076.1:p.Ala300Thr
NM_001083607.3:c.897_898delinsAA	NP_001077076.1:p.Ala300Thr
NM_001354918.1:c.1347+355_1347+356delinsAA	NP_001341847.1:n.1347+355_1347+356delinsAA
NM_001354918.2:c.1347+355_1347+356delinsAA	NP_001341847.1:n.1347+355_1347+356delinsAA
NR_149061.1:n.1538_1539delinsAA
NR_149061.2:n.2255_2256delinsAA
ENST00000331920.10:c.1350_1351delinsAA	ENSP00000332353.6:p.Ala451Thr
ENST00000375271.4:c.498+355_498+356delinsAA	ENSP00000364420.4:n.498+355_498+356delinsAA
ENST00000375274.6:c.1347_1348delinsAA	ENSP00000364423.2:p.Ala450Thr
ENST00000375290.6:c.987_988delinsAA	ENSP00000364439.2:p.Ala330Thr
ENST00000418258.5:c.897_898delinsAA	ENSP00000396135.1:p.Ala300Thr
ENST00000421141.5:c.897_898delinsAA	ENSP00000399981.1:p.Ala300Thr
ENST00000429896.6:c.897_898delinsAA	ENSP00000414823.2:p.Ala300Thr
ENST00000430669.6:c.1152_1153delinsAA	ENSP00000410287.2:p.Ala385Thr
ENST00000437951.5:c.1152_1153delinsAA	ENSP00000389744.1:p.Ala385Thr
ENST00000690194.1:c.897_898delinsAA	ENSP00000509379.1:p.Ala300Thr
ENST00000692981.1:c.897_898delinsAA	ENSP00000510238.1:p.Ala300Thr
ENST00000711046.1:c.1152_1153delinsAA	ENSP00000518556.1:p.Ala385Thr
XM_005252102.2:c.897_898delinsAA	XP_005252159.1:p.Ala300Thr
XM_011518868.1:c.1347+355_1347+356delinsAA	XP_011517170.1:n.1347+355_1347+356delinsAA
XM_011518869.1:c.897_898delinsAA	XP_011517171.1:p.Ala300Thr
XM_011518870.1:c.897_898delinsAA	XP_011517172.1:p.Ala300Thr
XM_011518871.1:c.897_898delinsAA	XP_011517173.1:p.Ala300Thr
XM_011518872.1:c.897_898delinsAA	XP_011517174.1:p.Ala300Thr
XM_011518873.1:c.510_511delinsAA	XP_011517175.1:p.Ala171Thr
XM_011518874.1:c.1350_1351delinsAA	XP_011517176.1:p.Ala451Thr