Canonical Allele Identifier: CA2695210934

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95479078_95479079delinsTC , CM000671.2:g.95479078_95479079delinsTC	GRCh38
NC_000009.11:g.98241360_98241361delinsTC , CM000671.1:g.98241360_98241361delinsTC	GRCh37
NC_000009.10:g.97281181_97281182delinsTC	NCBI36
NG_007664.1:g.42887_42888delinsGA , LRG_515:g.42887_42888delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.938_939delinsGA	ENSP00000518556.1:p.Tyr313Ter
ENST00000437951.6:c.1133_1134delinsGA MANE Plus Clinical	ENSP00000389744.2:p.Tyr378Ter
ENST00000690194.1:c.683_684delinsGA	ENSP00000509379.1:p.Tyr228Ter
ENST00000692981.1:c.683_684delinsGA	ENSP00000510238.1:p.Tyr228Ter
ENST00000331920.11:c.1136_1137delinsGA MANE Select	ENSP00000332353.6:p.Tyr379Ter
ENST00000331920.10:c.1136_1137delinsGA	ENSP00000332353.6:p.Tyr379Ter
ENST00000375271.4:c.287_288delinsGA	ENSP00000364420.4:p.Tyr96Ter
ENST00000375274.6:c.1133_1134delinsGA	ENSP00000364423.2:p.Tyr378Ter
ENST00000375290.6:c.773_774delinsGA	ENSP00000364439.2:p.Tyr258Ter
ENST00000418258.5:c.683_684delinsGA	ENSP00000396135.1:p.Tyr228Ter
ENST00000421141.5:c.683_684delinsGA	ENSP00000399981.1:p.Tyr228Ter
ENST00000429896.6:c.683_684delinsGA	ENSP00000414823.2:p.Tyr228Ter
ENST00000430669.6:c.938_939delinsGA	ENSP00000410287.2:p.Tyr313Ter
ENST00000437951.5:c.938_939delinsGA	ENSP00000389744.1:p.Tyr313Ter
NM_000264.3:c.1136_1137delinsGA , LRG_515t1:c.1136_1137delinsGA	NP_000255.2:p.Tyr379Ter
NM_001083602.1:c.938_939delinsGA , LRG_515t2:c.938_939delinsGA	NP_001077071.1:p.Tyr313Ter
NM_001083603.1:c.1133_1134delinsGA	NP_001077072.1:p.Tyr378Ter
NM_001083604.1:c.683_684delinsGA	NP_001077073.1:p.Tyr228Ter
NM_001083605.1:c.683_684delinsGA	NP_001077074.1:p.Tyr228Ter
NM_001083606.1:c.683_684delinsGA	NP_001077075.1:p.Tyr228Ter
NM_001083607.1:c.683_684delinsGA	NP_001077076.1:p.Tyr228Ter
XM_005252102.2:c.683_684delinsGA	XP_005252159.1:p.Tyr228Ter
XM_011518868.1:c.1136_1137delinsGA	XP_011517170.1:p.Tyr379Ter
XM_011518869.1:c.683_684delinsGA	XP_011517171.1:p.Tyr228Ter
XM_011518870.1:c.683_684delinsGA	XP_011517172.1:p.Tyr228Ter
XM_011518871.1:c.683_684delinsGA	XP_011517173.1:p.Tyr228Ter
XM_011518872.1:c.683_684delinsGA	XP_011517174.1:p.Tyr228Ter
XM_011518873.1:c.296_297delinsGA	XP_011517175.1:p.Tyr99Ter
XM_011518874.1:c.1136_1137delinsGA	XP_011517176.1:p.Tyr379Ter
NM_000264.4:c.1136_1137delinsGA	NP_000255.2:p.Tyr379Ter
NM_001083602.2:c.938_939delinsGA	NP_001077071.1:p.Tyr313Ter
NM_001083603.2:c.1133_1134delinsGA	NP_001077072.1:p.Tyr378Ter
NM_001083604.2:c.683_684delinsGA	NP_001077073.1:p.Tyr228Ter
NM_001083605.2:c.683_684delinsGA	NP_001077074.1:p.Tyr228Ter
NM_001083606.2:c.683_684delinsGA	NP_001077075.1:p.Tyr228Ter
NM_001083607.2:c.683_684delinsGA	NP_001077076.1:p.Tyr228Ter
NM_001354918.1:c.1136_1137delinsGA	NP_001341847.1:p.Tyr379Ter
NR_149061.1:n.1324_1325delinsGA
NM_000264.5:c.1136_1137delinsGA MANE Select	NP_000255.2:p.Tyr379Ter
NM_001083606.3:c.683_684delinsGA	NP_001077075.1:p.Tyr228Ter
NM_001354918.2:c.1136_1137delinsGA	NP_001341847.1:p.Tyr379Ter
NR_149061.2:n.2041_2042delinsGA
NM_001083602.3:c.938_939delinsGA	NP_001077071.1:p.Tyr313Ter
NM_001083603.3:c.1133_1134delinsGA MANE Plus Clinical	NP_001077072.1:p.Tyr378Ter
NM_001083604.3:c.683_684delinsGA	NP_001077073.1:p.Tyr228Ter
NM_001083605.3:c.683_684delinsGA	NP_001077074.1:p.Tyr228Ter
NM_001083607.3:c.683_684delinsGA	NP_001077076.1:p.Tyr228Ter