Canonical Allele Identifier: CA2667173183

Gene: HGD

Linked Data

• gnomAD v4: 3-120675103-C-CCCCACCAACCAACTCAGTAGGGGGATGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675103_120675104insCCCACCAACCAACTCAGTAGGGGGATGGGGA , CM000665.2:g.120675103_120675104insCCCACCAACCAACTCAGTAGGGGGATGGGGA	GRCh38
NC_000003.11:g.120393950_120393951insCCCACCAACCAACTCAGTAGGGGGATGGGGA , CM000665.1:g.120393950_120393951insCCCACCAACCAACTCAGTAGGGGGATGGGGA	GRCh37
NC_000003.10:g.121876640_121876641insCCCACCAACCAACTCAGTAGGGGGATGGGGA	NCBI36
NG_011957.1:g.12378_12379insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG MANE Select	ENSP00000283871.5:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTT...
ENST00000283871.9:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	ENSP00000283871.5:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTT...
ENST00000466528.5:n.114-115_114-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG
ENST00000476082.2:c.53+688_53+689insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	ENSP00000419560.2:n.53+688_53+689insTCCCCATCCCCCTACTGAGTTGGTT...
ENST00000480862.1:n.246-115_246-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG
ENST00000485313.5:n.196-115_196-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG
ENST00000488183.5:n.346-115_346-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG
NM_000187.3:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	NP_000178.2:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG...
XM_005247412.1:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_005247469.1:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGT...
XM_005247413.1:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_005247470.1:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGT...
XM_005247414.3:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_005247471.1:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGT...
XM_011512746.1:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_011511048.1:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGT...
XM_005247412.2:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_005247469.1:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGT...
XM_005247413.2:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_005247470.1:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGT...
XM_005247414.5:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_005247471.1:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGT...
XM_011512746.2:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_011511048.1:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGT...
XM_017006277.2:c.-336-115_-336-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG	XP_016861766.1:n.-336-115_-336-114insTCCCCATCCCCCTACTGAGTTGGT...
NM_000187.4:c.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG MANE Select	NP_000178.2:n.88-115_88-114insTCCCCATCCCCCTACTGAGTTGGTTGGTGGG...