Canonical Allele Identifier: CA2667172726

Gene: HGD

Linked Data

• gnomAD v4: 3-120670624-T-TAGTAGAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670624_120670625insAGTAGAAGA , CM000665.2:g.120670624_120670625insAGTAGAAGA	GRCh38
NC_000003.11:g.120389471_120389472insAGTAGAAGA , CM000665.1:g.120389471_120389472insAGTAGAAGA	GRCh37
NC_000003.10:g.121872161_121872162insAGTAGAAGA	NCBI36
NG_011957.1:g.16857_16858insTCTTCTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.177-93_177-92insTCTTCTACT MANE Select	ENSP00000283871.5:n.177-93_177-92insTCTTCTACT
ENST00000283871.9:c.177-93_177-92insTCTTCTACT	ENSP00000283871.5:n.177-93_177-92insTCTTCTACT
ENST00000466528.5:n.203-93_203-92insTCTTCTACT
ENST00000476082.2:c.54-93_54-92insTCTTCTACT	ENSP00000419560.2:n.54-93_54-92insTCTTCTACT
ENST00000485313.5:n.285-93_285-92insTCTTCTACT
ENST00000488183.5:n.435-93_435-92insTCTTCTACT
NM_000187.3:c.177-93_177-92insTCTTCTACT	NP_000178.2:n.177-93_177-92insTCTTCTACT
XM_005247412.1:c.177-93_177-92insTCTTCTACT	XP_005247469.1:n.177-93_177-92insTCTTCTACT
XM_005247413.1:c.177-93_177-92insTCTTCTACT	XP_005247470.1:n.177-93_177-92insTCTTCTACT
XM_005247414.3:c.177-93_177-92insTCTTCTACT	XP_005247471.1:n.177-93_177-92insTCTTCTACT
XM_011512746.1:c.177-93_177-92insTCTTCTACT	XP_011511048.1:n.177-93_177-92insTCTTCTACT
XM_005247412.2:c.177-93_177-92insTCTTCTACT	XP_005247469.1:n.177-93_177-92insTCTTCTACT
XM_005247413.2:c.177-93_177-92insTCTTCTACT	XP_005247470.1:n.177-93_177-92insTCTTCTACT
XM_005247414.5:c.177-93_177-92insTCTTCTACT	XP_005247471.1:n.177-93_177-92insTCTTCTACT
XM_011512746.2:c.177-93_177-92insTCTTCTACT	XP_011511048.1:n.177-93_177-92insTCTTCTACT
XM_017006277.2:c.-247-93_-247-92insTCTTCTACT	XP_016861766.1:n.-247-93_-247-92insTCTTCTACT
NM_000187.4:c.177-93_177-92insTCTTCTACT MANE Select	NP_000178.2:n.177-93_177-92insTCTTCTACT