Canonical Allele Identifier: CA2559865890

Gene: PTCHD3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27404177_27404178insAAAGGTAATGTTATGGTTGCTGAGGAG , CM000672.2:g.27404177_27404178insAAAGGTAATGTTATGGTTGCTGAGGAG	GRCh38
NC_000010.10:g.27693106_27693107insAAAGGTAATGTTATGGTTGCTGAGGAG , CM000672.1:g.27693106_27693107insAAAGGTAATGTTATGGTTGCTGAGGAG	GRCh37
NC_000010.9:g.27733112_27733113insAAAGGTAATGTTATGGTTGCTGAGGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642324.1:c.1212-821_1212-820insCTCCTCAGCAACCATAACATTACCTTT	ENSP00000495205.1:n.1212-821_1212-820insCTCCTCAGCAACCATAACATT...
ENST00000438700.7:c.1212-821_1212-820insCTCCTCAGCAACCATAACATTACCTTT	ENSP00000417658.2:n.1212-821_1212-820insCTCCTCAGCAACCATAACATT...
ENST00000622555.1:c.1212-821_1212-820insCTCCTCAGCAACCATAACATTACCTTT	ENSP00000479436.1:n.1212-821_1212-820insCTCCTCAGCAACCATAACATT...
NM_001034842.3:c.1212-821_1212-820insCTCCTCAGCAACCATAACATTACCTTT	NP_001030014.2:n.1212-821_1212-820insCTCCTCAGCAACCATAACATTACC...
XM_005252449.2:c.1090-821_1090-820insCTCCTCAGCAACCATAACATTACCTTT	XP_005252506.1:n.1090-821_1090-820insCTCCTCAGCAACCATAACATTACC...
NM_001034842.4:c.1212-821_1212-820insCTCCTCAGCAACCATAACATTACCTTT	NP_001030014.2:n.1212-821_1212-820insCTCCTCAGCAACCATAACATTACC...
NM_001034842.5:c.1212-821_1212-820insCTCCTCAGCAACCATAACATTACCTTT	NP_001030014.2:n.1212-821_1212-820insCTCCTCAGCAACCATAACATTACC...
NM_001395743.1:c.1212-821_1212-820insCTCCTCAGCAACCATAACATTACCTTT	NP_001382672.1:n.1212-821_1212-820insCTCCTCAGCAACCATAACATTACC...