Canonical Allele Identifier: CA16618914
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423140
ClinVar RCV Id: RCV000486502
dbSNP Id: rs1064796259

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95485780_95485781insAT , CM000671.2:g.95485780_95485781insAT GRCh38
NC_000009.11:g.98248062_98248063insAT , CM000671.1:g.98248062_98248063insAT GRCh37
NC_000009.10:g.97287883_97287884insAT NCBI36
NG_007664.1:g.36186_36187insTA , LRG_515:g.36186_36187insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.291_292insTA ENSP00000518556.1:p.Glu98Ter
ENST00000437951.6:c.486_487insTA MANE Plus Clinical ENSP00000389744.2:p.Glu163Ter
ENST00000690194.1:c.36_37insTA ENSP00000509379.1:p.Glu13Ter
ENST00000692981.1:c.36_37insTA ENSP00000510238.1:p.Glu13Ter
ENST00000331920.11:c.489_490insTA MANE Select ENSP00000332353.6:p.Glu164Ter
ENST00000331920.10:c.489_490insTA ENSP00000332353.6:p.Glu164Ter
ENST00000375274.6:c.486_487insTA ENSP00000364423.2:p.Glu163Ter
ENST00000375290.6:c.288_289insTA ENSP00000364439.2:p.Glu97Ter
ENST00000418258.5:c.36_37insTA ENSP00000396135.1:p.Glu13Ter
ENST00000421141.5:c.36_37insTA ENSP00000399981.1:p.Glu13Ter
ENST00000429896.6:c.36_37insTA ENSP00000414823.2:p.Glu13Ter
ENST00000430669.6:c.291_292insTA ENSP00000410287.2:p.Glu98Ter
ENST00000437951.5:c.291_292insTA ENSP00000389744.1:p.Glu98Ter
ENST00000468211.6:c.291_292insTA ENSP00000449745.1:p.Glu98Ter
ENST00000546820.5:c.36_37insTA ENSP00000448843.1:p.Glu13Ter
ENST00000547672.5:c.36_37insTA ENSP00000447878.1:p.Glu13Ter
ENST00000548379.5:n.142_143insTA
ENST00000548420.1:c.-94-5192_-94-5191insTA ENSP00000449078.1:n.-94-5192_-94-5191insT...
ENST00000548945.6:n.194-5192_194-5191insTA
ENST00000550914.6:c.36_37insTA ENSP00000450047.1:p.Glu13Ter
ENST00000551623.1:c.131_132insTA ENSP00000447242.1:n.131_132insTA
ENST00000551630.1:c.36_37insTA ENSP00000450131.1:p.Glu13Ter
ENST00000551845.5:c.36_37insTA ENSP00000447008.1:p.Glu13Ter
ENST00000553011.5:c.36_37insTA ENSP00000447797.1:p.Glu13Ter
ENST00000553256.5:n.235_236insTA
NM_000264.3:c.489_490insTA , LRG_515t1:c.489_490insTA NP_000255.2:p.Glu164Ter
NM_001083602.1:c.291_292insTA , LRG_515t2:c.291_292insTA NP_001077071.1:p.Glu98Ter
NM_001083603.1:c.486_487insTA NP_001077072.1:p.Glu163Ter
NM_001083604.1:c.36_37insTA NP_001077073.1:p.Glu13Ter
NM_001083605.1:c.36_37insTA NP_001077074.1:p.Glu13Ter
NM_001083606.1:c.36_37insTA NP_001077075.1:p.Glu13Ter
NM_001083607.1:c.36_37insTA NP_001077076.1:p.Glu13Ter
XM_005252102.2:c.36_37insTA XP_005252159.1:p.Glu13Ter
XM_011518868.1:c.489_490insTA XP_011517170.1:p.Glu164Ter
XM_011518869.1:c.36_37insTA XP_011517171.1:p.Glu13Ter
XM_011518870.1:c.36_37insTA XP_011517172.1:p.Glu13Ter
XM_011518871.1:c.36_37insTA XP_011517173.1:p.Glu13Ter
XM_011518872.1:c.36_37insTA XP_011517174.1:p.Glu13Ter
XM_011518873.1:c.-94-5192_-94-5191insTA XP_011517175.1:n.-94-5192_-94-5191insTA
XM_011518874.1:c.489_490insTA XP_011517176.1:p.Glu164Ter
NM_000264.4:c.489_490insTA NP_000255.2:p.Glu164Ter
NM_001083602.2:c.291_292insTA NP_001077071.1:p.Glu98Ter
NM_001083603.2:c.486_487insTA NP_001077072.1:p.Glu163Ter
NM_001083604.2:c.36_37insTA NP_001077073.1:p.Glu13Ter
NM_001083605.2:c.36_37insTA NP_001077074.1:p.Glu13Ter
NM_001083606.2:c.36_37insTA NP_001077075.1:p.Glu13Ter
NM_001083607.2:c.36_37insTA NP_001077076.1:p.Glu13Ter
NM_001354918.1:c.489_490insTA NP_001341847.1:p.Glu164Ter
NM_001354919.1:c.291_292insTA NP_001341848.1:p.Glu98Ter
NR_149061.1:n.677_678insTA
NM_000264.5:c.489_490insTA MANE Select NP_000255.2:p.Glu164Ter
NM_001083606.3:c.36_37insTA NP_001077075.1:p.Glu13Ter
NM_001354918.2:c.489_490insTA NP_001341847.1:p.Glu164Ter
NR_149061.2:n.1394_1395insTA
NM_001083602.3:c.291_292insTA NP_001077071.1:p.Glu98Ter
NM_001083603.3:c.486_487insTA MANE Plus Clinical NP_001077072.1:p.Glu163Ter
NM_001083604.3:c.36_37insTA NP_001077073.1:p.Glu13Ter
NM_001083605.3:c.36_37insTA NP_001077074.1:p.Glu13Ter
NM_001083607.3:c.36_37insTA NP_001077076.1:p.Glu13Ter
NM_001354919.2:c.291_292insTA NP_001341848.1:p.Glu98Ter