Canonical Allele Identifier: CA1139661044
Community Standard Title: NM_000264.5(PTCH1):c.3088_3099delinsAACACCAA (p.Leu1030AsnfsTer18)
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95458082_95458093delinsTTGGTGTT , CM000671.2:g.95458082_95458093delinsTTGGTGTT GRCh38
NC_000009.11:g.98220364_98220375delinsTTGGTGTT , CM000671.1:g.98220364_98220375delinsTTGGTGTT GRCh37
NC_000009.10:g.97260185_97260196delinsTTGGTGTT NCBI36
NG_007664.1:g.63873_63884delinsAACACCAA , LRG_515:g.63873_63884delinsAACACCAA

Transcript Alleles

HGVS Amino-acid Change
NM_000264.5:c.3088_3099delinsAACACCAA MANE Select NP_000255.2:p.Leu1030AsnfsTer18
ENST00000331920.11:c.3088_3099delinsAACACCAA MANE Select ENSP00000332353.6:p.Leu1030AsnfsTer18
NM_001083603.3:c.3085_3096delinsAACACCAA MANE Plus Clinical NP_001077072.1:p.Leu1029AsnfsTer18
ENST00000437951.6:c.3085_3096delinsAACACCAA MANE Plus Clinical ENSP00000389744.2:p.Leu1029AsnfsTer18
NM_000264.3:c.3088_3099delinsAACACCAA , LRG_515t1:c.3088_3099delinsAACACCAA NP_000255.2:p.Leu1030AsnfsTer18
NM_000264.4:c.3088_3099delinsAACACCAA NP_000255.2:p.Leu1030AsnfsTer18
NM_001083602.1:c.2890_2901delinsAACACCAA , LRG_515t2:c.2890_2901delinsAACACCAA NP_001077071.1:p.Leu964AsnfsTer18
NM_001083602.2:c.2890_2901delinsAACACCAA NP_001077071.1:p.Leu964AsnfsTer18
NM_001083602.3:c.2890_2901delinsAACACCAA NP_001077071.1:p.Leu964AsnfsTer18
NM_001083603.1:c.3085_3096delinsAACACCAA NP_001077072.1:p.Leu1029AsnfsTer18
NM_001083603.2:c.3085_3096delinsAACACCAA NP_001077072.1:p.Leu1029AsnfsTer18
NM_001083604.1:c.2635_2646delinsAACACCAA NP_001077073.1:p.Leu879AsnfsTer18
NM_001083604.2:c.2635_2646delinsAACACCAA NP_001077073.1:p.Leu879AsnfsTer18
NM_001083604.3:c.2635_2646delinsAACACCAA NP_001077073.1:p.Leu879AsnfsTer18
NM_001083605.1:c.2635_2646delinsAACACCAA NP_001077074.1:p.Leu879AsnfsTer18
NM_001083605.2:c.2635_2646delinsAACACCAA NP_001077074.1:p.Leu879AsnfsTer18
NM_001083605.3:c.2635_2646delinsAACACCAA NP_001077074.1:p.Leu879AsnfsTer18
NM_001083606.1:c.2635_2646delinsAACACCAA NP_001077075.1:p.Leu879AsnfsTer18
NM_001083606.2:c.2635_2646delinsAACACCAA NP_001077075.1:p.Leu879AsnfsTer18
NM_001083606.3:c.2635_2646delinsAACACCAA NP_001077075.1:p.Leu879AsnfsTer18
NM_001083607.1:c.2635_2646delinsAACACCAA NP_001077076.1:p.Leu879AsnfsTer18
NM_001083607.2:c.2635_2646delinsAACACCAA NP_001077076.1:p.Leu879AsnfsTer18
NM_001083607.3:c.2635_2646delinsAACACCAA NP_001077076.1:p.Leu879AsnfsTer18
NM_001354918.1:c.2932_2943delinsAACACCAA NP_001341847.1:p.Leu978AsnfsTer18
NM_001354918.2:c.2932_2943delinsAACACCAA NP_001341847.1:p.Leu978AsnfsTer18
NR_149061.1:n.3110_3121delinsAACACCAA
NR_149061.2:n.3827_3838delinsAACACCAA
ENST00000331920.10:c.3088_3099delinsAACACCAA ENSP00000332353.6:p.Leu1030AsnfsTer18
ENST00000375274.6:c.3085_3096delinsAACACCAA ENSP00000364423.2:p.Leu1029AsnfsTer18
ENST00000375290.6:c.2857_2868delinsAACACCAA ENSP00000364439.2:n.2857_2868delinsAACACCAA
ENST00000418258.5:c.2635_2646delinsAACACCAA ENSP00000396135.1:p.Leu879AsnfsTer18
ENST00000421141.5:c.2635_2646delinsAACACCAA ENSP00000399981.1:p.Leu879AsnfsTer18
ENST00000429896.6:c.2635_2646delinsAACACCAA ENSP00000414823.2:p.Leu879AsnfsTer18
ENST00000430669.6:c.2890_2901delinsAACACCAA ENSP00000410287.2:p.Leu964AsnfsTer18
ENST00000437951.5:c.2890_2901delinsAACACCAA ENSP00000389744.1:p.Leu964AsnfsTer18
ENST00000547615.1:n.438_449delinsAACACCAA
ENST00000690194.1:c.*1396_*1407delinsAACACCAA ENSP00000509379.1:n.*1396_*1407delinsAACACCAA
ENST00000692981.1:c.2635_2646delinsAACACCAA ENSP00000510238.1:p.Leu879AsnfsTer18
ENST00000693534.1:n.419_430delinsAACACCAA
ENST00000711046.1:c.2890_2901delinsAACACCAA ENSP00000518556.1:p.Leu964AsnfsTer18
XM_005252102.2:c.2635_2646delinsAACACCAA XP_005252159.1:p.Leu879AsnfsTer18
XM_011518868.1:c.2932_2943delinsAACACCAA XP_011517170.1:p.Leu978AsnfsTer18
XM_011518869.1:c.2635_2646delinsAACACCAA XP_011517171.1:p.Leu879AsnfsTer18
XM_011518870.1:c.2635_2646delinsAACACCAA XP_011517172.1:p.Leu879AsnfsTer18
XM_011518871.1:c.2635_2646delinsAACACCAA XP_011517173.1:p.Leu879AsnfsTer18
XM_011518872.1:c.2635_2646delinsAACACCAA XP_011517174.1:p.Leu879AsnfsTer18
XM_011518873.1:c.2248_2259delinsAACACCAA XP_011517175.1:p.Leu750AsnfsTer18
XM_011518874.1:c.3088_3099delinsAACACCAA XP_011517176.1:p.Leu1030AsnfsTer18