Canonical Allele Identifier: CA1397109460

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675295_120675331delinsATACCTGTAACCCTGTAATAATCAGGCATTTTTTCCT , CM000665.2:g.120675295_120675331delinsATACCTGTAACCCTGTAATAATCAGGCATTTTTTCCT	GRCh38
NC_000003.11:g.120394142_120394178delinsATACCTGTAACCCTGTAATAATCAGGCATTTTTTCCT , CM000665.1:g.120394142_120394178delinsATACCTGTAACCCTGTAATAATCAGGCATTTTTTCCT	GRCh37
NC_000003.10:g.121876832_121876868delinsATACCTGTAACCCTGTAATAATCAGGCATTTTTTCCT	NCBI36
NG_011957.1:g.12151_12187delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT MANE Select	ENSP00000283871.5:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTA...
ENST00000283871.9:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	ENSP00000283871.5:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTA...
ENST00000466528.5:n.114-342_114-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT
ENST00000476082.2:c.53+461_53+497delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	ENSP00000419560.2:n.53+461_53+497delinsAGGAAAAAATGCCTGATTATTA...
ENST00000480862.1:n.246-342_246-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT
ENST00000485313.5:n.196-342_196-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT
ENST00000488183.5:n.346-342_346-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT
NM_000187.3:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	NP_000178.2:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGT...
XM_005247412.1:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_005247469.1:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAG...
XM_005247413.1:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_005247470.1:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAG...
XM_005247414.3:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_005247471.1:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAG...
XM_011512746.1:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_011511048.1:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAG...
XM_005247412.2:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_005247469.1:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAG...
XM_005247413.2:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_005247470.1:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAG...
XM_005247414.5:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_005247471.1:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAG...
XM_011512746.2:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_011511048.1:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAG...
XM_017006277.2:c.-336-342_-336-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT	XP_016861766.1:n.-336-342_-336-306delinsAGGAAAAAATGCCTGATTATT...
NM_000187.4:c.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGTTACAGGTAT MANE Select	NP_000178.2:n.88-342_88-306delinsAGGAAAAAATGCCTGATTATTACAGGGT...