Canonical Allele Identifier: CA466122316

Gene: PTCH1

Linked Data

• MyVariant Identifiers: chr9:g.98241333_98241334insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479051_95479052insC , CM000671.2:g.95479051_95479052insC	GRCh38
NC_000009.11:g.98241333_98241334insC , CM000671.1:g.98241333_98241334insC	GRCh37
NC_000009.10:g.97281154_97281155insC	NCBI36
NG_007664.1:g.42914_42915insG , LRG_515:g.42914_42915insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.965_966insG	ENSP00000518556.1:p.Asn322LysfsTer?
ENST00000437951.6:c.1160_1161insG MANE Plus Clinical	ENSP00000389744.2:p.Asn387LysfsTer?
ENST00000690194.1:c.710_711insG	ENSP00000509379.1:p.Asn237LysfsTer?
ENST00000692981.1:c.710_711insG	ENSP00000510238.1:p.Asn237LysfsTer?
ENST00000331920.11:c.1163_1164insG MANE Select	ENSP00000332353.6:p.Asn388LysfsTer?
ENST00000331920.10:c.1163_1164insG	ENSP00000332353.6:p.Asn388LysfsTer?
ENST00000375271.4:c.314_315insG	ENSP00000364420.4:p.Asn105LysfsTer?
ENST00000375274.6:c.1160_1161insG	ENSP00000364423.2:p.Asn387LysfsTer?
ENST00000375290.6:c.800_801insG	ENSP00000364439.2:p.Asn267LysfsTer?
ENST00000418258.5:c.710_711insG	ENSP00000396135.1:p.Asn237LysfsTer?
ENST00000421141.5:c.710_711insG	ENSP00000399981.1:p.Asn237LysfsTer?
ENST00000429896.6:c.710_711insG	ENSP00000414823.2:p.Asn237LysfsTer?
ENST00000430669.6:c.965_966insG	ENSP00000410287.2:p.Asn322LysfsTer?
ENST00000437951.5:c.965_966insG	ENSP00000389744.1:p.Asn322LysfsTer?
NM_000264.3:c.1163_1164insG , LRG_515t1:c.1163_1164insG	NP_000255.2:p.Asn388LysfsTer?
NM_001083602.1:c.965_966insG , LRG_515t2:c.965_966insG	NP_001077071.1:p.Asn322LysfsTer?
NM_001083603.1:c.1160_1161insG	NP_001077072.1:p.Asn387LysfsTer?
NM_001083604.1:c.710_711insG	NP_001077073.1:p.Asn237LysfsTer?
NM_001083605.1:c.710_711insG	NP_001077074.1:p.Asn237LysfsTer?
NM_001083606.1:c.710_711insG	NP_001077075.1:p.Asn237LysfsTer?
NM_001083607.1:c.710_711insG	NP_001077076.1:p.Asn237LysfsTer?
XM_005252102.2:c.710_711insG	XP_005252159.1:p.Asn237LysfsTer?
XM_011518868.1:c.1163_1164insG	XP_011517170.1:p.Asn388LysfsTer?
XM_011518869.1:c.710_711insG	XP_011517171.1:p.Asn237LysfsTer?
XM_011518870.1:c.710_711insG	XP_011517172.1:p.Asn237LysfsTer?
XM_011518871.1:c.710_711insG	XP_011517173.1:p.Asn237LysfsTer?
XM_011518872.1:c.710_711insG	XP_011517174.1:p.Asn237LysfsTer?
XM_011518873.1:c.323_324insG	XP_011517175.1:p.Asn108LysfsTer?
XM_011518874.1:c.1163_1164insG	XP_011517176.1:p.Asn388LysfsTer?
NM_000264.4:c.1163_1164insG	NP_000255.2:p.Asn388LysfsTer?
NM_001083602.2:c.965_966insG	NP_001077071.1:p.Asn322LysfsTer?
NM_001083603.2:c.1160_1161insG	NP_001077072.1:p.Asn387LysfsTer?
NM_001083604.2:c.710_711insG	NP_001077073.1:p.Asn237LysfsTer?
NM_001083605.2:c.710_711insG	NP_001077074.1:p.Asn237LysfsTer?
NM_001083606.2:c.710_711insG	NP_001077075.1:p.Asn237LysfsTer?
NM_001083607.2:c.710_711insG	NP_001077076.1:p.Asn237LysfsTer?
NM_001354918.1:c.1163_1164insG	NP_001341847.1:p.Asn388LysfsTer?
NR_149061.1:n.1351_1352insG
NM_000264.5:c.1163_1164insG MANE Select	NP_000255.2:p.Asn388LysfsTer?
NM_001083606.3:c.710_711insG	NP_001077075.1:p.Asn237LysfsTer?
NM_001354918.2:c.1163_1164insG	NP_001341847.1:p.Asn388LysfsTer?
NR_149061.2:n.2068_2069insG
NM_001083602.3:c.965_966insG	NP_001077071.1:p.Asn322LysfsTer?
NM_001083603.3:c.1160_1161insG MANE Plus Clinical	NP_001077072.1:p.Asn387LysfsTer?
NM_001083604.3:c.710_711insG	NP_001077073.1:p.Asn237LysfsTer?
NM_001083605.3:c.710_711insG	NP_001077074.1:p.Asn237LysfsTer?
NM_001083607.3:c.710_711insG	NP_001077076.1:p.Asn237LysfsTer?