Canonical Allele Identifier: CA658657882

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 453851
• ClinVar RCV Id: RCV000525810
• dbSNP Id: rs1554690411
• MyVariant Identifiers: chr9:g.98215780_98215781del (hg19) ; chr9:g.95453498_95453499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453499_95453500del , CM000671.2:g.95453499_95453500del	GRCh38
NC_000009.11:g.98215781_98215782del , CM000671.1:g.98215781_98215782del	GRCh37
NC_000009.10:g.97255602_97255603del	NCBI36
NG_007664.1:g.68467_68468del , LRG_515:g.68467_68468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3230_3231del	ENSP00000518556.1:p.Ser1077Ter
ENST00000437951.6:c.3425_3426del MANE Plus Clinical	ENSP00000389744.2:p.Ser1142Ter
ENST00000690194.1:c.*1736_*1737del	ENSP00000509379.1:n.*1736_*1737del
ENST00000692981.1:c.2975_2976del	ENSP00000510238.1:p.Ser992Ter
ENST00000693534.1:n.759_760del
ENST00000331920.11:c.3428_3429del MANE Select	ENSP00000332353.6:p.Ser1143Ter
ENST00000331920.10:c.3428_3429del	ENSP00000332353.6:p.Ser1143Ter
ENST00000375274.6:c.3425_3426del	ENSP00000364423.2:p.Ser1142Ter
ENST00000375290.6:c.3197_3198del	ENSP00000364439.2:n.3197_3198del
ENST00000418258.5:c.2975_2976del	ENSP00000396135.1:p.Ser992Ter
ENST00000421141.5:c.2975_2976del	ENSP00000399981.1:p.Ser992Ter
ENST00000429896.6:c.2975_2976del	ENSP00000414823.2:p.Ser992Ter
ENST00000430669.6:c.3230_3231del	ENSP00000410287.2:p.Ser1077Ter
ENST00000437951.5:c.3230_3231del	ENSP00000389744.1:p.Ser1077Ter
NM_000264.3:c.3428_3429del , LRG_515t1:c.3428_3429del	NP_000255.2:p.Ser1143Ter
NM_001083602.1:c.3230_3231del , LRG_515t2:c.3230_3231del	NP_001077071.1:p.Ser1077Ter
NM_001083603.1:c.3425_3426del	NP_001077072.1:p.Ser1142Ter
NM_001083604.1:c.2975_2976del	NP_001077073.1:p.Ser992Ter
NM_001083605.1:c.2975_2976del	NP_001077074.1:p.Ser992Ter
NM_001083606.1:c.2975_2976del	NP_001077075.1:p.Ser992Ter
NM_001083607.1:c.2975_2976del	NP_001077076.1:p.Ser992Ter
XM_005252102.2:c.2975_2976del	XP_005252159.1:p.Ser992Ter
XM_011518868.1:c.3272_3273del	XP_011517170.1:p.Ser1091Ter
XM_011518869.1:c.2975_2976del	XP_011517171.1:p.Ser992Ter
XM_011518870.1:c.2975_2976del	XP_011517172.1:p.Ser992Ter
XM_011518871.1:c.2975_2976del	XP_011517173.1:p.Ser992Ter
XM_011518872.1:c.2975_2976del	XP_011517174.1:p.Ser992Ter
XM_011518873.1:c.2588_2589del	XP_011517175.1:p.Ser863Ter
XM_011518874.1:c.3428_3429del	XP_011517176.1:p.Ser1143Ter
NM_000264.4:c.3428_3429del	NP_000255.2:p.Ser1143Ter
NM_001083602.2:c.3230_3231del	NP_001077071.1:p.Ser1077Ter
NM_001083603.2:c.3425_3426del	NP_001077072.1:p.Ser1142Ter
NM_001083604.2:c.2975_2976del	NP_001077073.1:p.Ser992Ter
NM_001083605.2:c.2975_2976del	NP_001077074.1:p.Ser992Ter
NM_001083606.2:c.2975_2976del	NP_001077075.1:p.Ser992Ter
NM_001083607.2:c.2975_2976del	NP_001077076.1:p.Ser992Ter
NM_001354918.1:c.3272_3273del	NP_001341847.1:p.Ser1091Ter
NR_149061.1:n.3450_3451del
NM_000264.5:c.3428_3429del MANE Select	NP_000255.2:p.Ser1143Ter
NM_001083606.3:c.2975_2976del	NP_001077075.1:p.Ser992Ter
NM_001354918.2:c.3272_3273del	NP_001341847.1:p.Ser1091Ter
NR_149061.2:n.4167_4168del
NM_001083602.3:c.3230_3231del	NP_001077071.1:p.Ser1077Ter
NM_001083603.3:c.3425_3426del MANE Plus Clinical	NP_001077072.1:p.Ser1142Ter
NM_001083604.3:c.2975_2976del	NP_001077073.1:p.Ser992Ter
NM_001083605.3:c.2975_2976del	NP_001077074.1:p.Ser992Ter
NM_001083607.3:c.2975_2976del	NP_001077076.1:p.Ser992Ter