Canonical Allele Identifier: CA645369447

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 428835
• ClinVar RCV Id: RCV000492738
• dbSNP Id: rs1554690414
• MyVariant Identifiers: chr9:g.98215785_98215799del (hg19) ; chr9:g.95453503_95453517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453504_95453518del , CM000671.2:g.95453504_95453518del	GRCh38
NC_000009.11:g.98215786_98215800del , CM000671.1:g.98215786_98215800del	GRCh37
NC_000009.10:g.97255607_97255621del	NCBI36
NG_007664.1:g.68449_68463del , LRG_515:g.68449_68463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3212_3226del	ENSP00000518556.1:p.Val1071_Ala1075del
ENST00000437951.6:c.3407_3421del MANE Plus Clinical	ENSP00000389744.2:p.Val1136_Ala1140del
ENST00000690194.1:c.*1718_*1732del	ENSP00000509379.1:n.*1718_*1732del
ENST00000692981.1:c.2957_2971del	ENSP00000510238.1:p.Val986_Ala990del
ENST00000693534.1:n.741_755del
ENST00000331920.11:c.3410_3424del MANE Select	ENSP00000332353.6:p.Val1137_Ala1141del
ENST00000331920.10:c.3410_3424del	ENSP00000332353.6:p.Val1137_Ala1141del
ENST00000375274.6:c.3407_3421del	ENSP00000364423.2:p.Val1136_Ala1140del
ENST00000375290.6:c.3179_3193del	ENSP00000364439.2:n.3179_3193del
ENST00000418258.5:c.2957_2971del	ENSP00000396135.1:p.Val986_Ala990del
ENST00000421141.5:c.2957_2971del	ENSP00000399981.1:p.Val986_Ala990del
ENST00000429896.6:c.2957_2971del	ENSP00000414823.2:p.Val986_Ala990del
ENST00000430669.6:c.3212_3226del	ENSP00000410287.2:p.Val1071_Ala1075del
ENST00000437951.5:c.3212_3226del	ENSP00000389744.1:p.Val1071_Ala1075del
NM_000264.3:c.3410_3424del , LRG_515t1:c.3410_3424del	NP_000255.2:p.Val1137_Ala1141del
NM_001083602.1:c.3212_3226del , LRG_515t2:c.3212_3226del	NP_001077071.1:p.Val1071_Ala1075del
NM_001083603.1:c.3407_3421del	NP_001077072.1:p.Val1136_Ala1140del
NM_001083604.1:c.2957_2971del	NP_001077073.1:p.Val986_Ala990del
NM_001083605.1:c.2957_2971del	NP_001077074.1:p.Val986_Ala990del
NM_001083606.1:c.2957_2971del	NP_001077075.1:p.Val986_Ala990del
NM_001083607.1:c.2957_2971del	NP_001077076.1:p.Val986_Ala990del
XM_005252102.2:c.2957_2971del	XP_005252159.1:p.Val986_Ala990del
XM_011518868.1:c.3254_3268del	XP_011517170.1:p.Val1085_Ala1089del
XM_011518869.1:c.2957_2971del	XP_011517171.1:p.Val986_Ala990del
XM_011518870.1:c.2957_2971del	XP_011517172.1:p.Val986_Ala990del
XM_011518871.1:c.2957_2971del	XP_011517173.1:p.Val986_Ala990del
XM_011518872.1:c.2957_2971del	XP_011517174.1:p.Val986_Ala990del
XM_011518873.1:c.2570_2584del	XP_011517175.1:p.Val857_Ala861del
XM_011518874.1:c.3410_3424del	XP_011517176.1:p.Val1137_Ala1141del
NM_000264.4:c.3410_3424del	NP_000255.2:p.Val1137_Ala1141del
NM_001083602.2:c.3212_3226del	NP_001077071.1:p.Val1071_Ala1075del
NM_001083603.2:c.3407_3421del	NP_001077072.1:p.Val1136_Ala1140del
NM_001083604.2:c.2957_2971del	NP_001077073.1:p.Val986_Ala990del
NM_001083605.2:c.2957_2971del	NP_001077074.1:p.Val986_Ala990del
NM_001083606.2:c.2957_2971del	NP_001077075.1:p.Val986_Ala990del
NM_001083607.2:c.2957_2971del	NP_001077076.1:p.Val986_Ala990del
NM_001354918.1:c.3254_3268del	NP_001341847.1:p.Val1085_Ala1089del
NR_149061.1:n.3432_3446del
NM_000264.5:c.3410_3424del MANE Select	NP_000255.2:p.Val1137_Ala1141del
NM_001083606.3:c.2957_2971del	NP_001077075.1:p.Val986_Ala990del
NM_001354918.2:c.3254_3268del	NP_001341847.1:p.Val1085_Ala1089del
NR_149061.2:n.4149_4163del
NM_001083602.3:c.3212_3226del	NP_001077071.1:p.Val1071_Ala1075del
NM_001083603.3:c.3407_3421del MANE Plus Clinical	NP_001077072.1:p.Val1136_Ala1140del
NM_001083604.3:c.2957_2971del	NP_001077073.1:p.Val986_Ala990del
NM_001083605.3:c.2957_2971del	NP_001077074.1:p.Val986_Ala990del
NM_001083607.3:c.2957_2971del	NP_001077076.1:p.Val986_Ala990del