Canonical Allele Identifier: CA2667171085

Gene: HGD

Linked Data

• gnomAD v4: 3-120638654-A-AAACACCTTCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638654_120638655insAACACCTTCATG , CM000665.2:g.120638654_120638655insAACACCTTCATG	GRCh38
NC_000003.11:g.120357501_120357502insAACACCTTCATG , CM000665.1:g.120357501_120357502insAACACCTTCATG	GRCh37
NC_000003.10:g.121840191_121840192insAACACCTTCATG	NCBI36
NG_011957.1:g.48827_48828insCATGAAGGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-74_880-73insCATGAAGGTGTT MANE Select	ENSP00000283871.5:n.880-74_880-73insCATGAAGGTGTT
ENST00000283871.9:c.880-74_880-73insCATGAAGGTGTT	ENSP00000283871.5:n.880-74_880-73insCATGAAGGTGTT
ENST00000470321.1:n.220-74_220-73insCATGAAGGTGTT
ENST00000475447.2:c.307+2934_307+2935insCATGAAGGTGTT
ENST00000492108.5:c.285+2934_285+2935insCATGAAGGTGTT	ENSP00000419838.1:n.285+2934_285+2935insCATGAAGGTGTT
ENST00000494453.1:c.300-74_300-73insCATGAAGGTGTT
NM_000187.3:c.880-74_880-73insCATGAAGGTGTT	NP_000178.2:n.880-74_880-73insCATGAAGGTGTT
XM_005247412.1:c.655-74_655-73insCATGAAGGTGTT	XP_005247469.1:n.655-74_655-73insCATGAAGGTGTT
XM_005247413.1:c.880-74_880-73insCATGAAGGTGTT	XP_005247470.1:n.880-74_880-73insCATGAAGGTGTT
XM_011512746.1:c.879+2934_879+2935insCATGAAGGTGTT	XP_011511048.1:n.879+2934_879+2935insCATGAAGGTGTT
XM_005247412.2:c.655-74_655-73insCATGAAGGTGTT	XP_005247469.1:n.655-74_655-73insCATGAAGGTGTT
XM_005247413.2:c.880-74_880-73insCATGAAGGTGTT	XP_005247470.1:n.880-74_880-73insCATGAAGGTGTT
XM_011512746.2:c.879+2934_879+2935insCATGAAGGTGTT	XP_011511048.1:n.879+2934_879+2935insCATGAAGGTGTT
XM_017006277.2:c.457-74_457-73insCATGAAGGTGTT	XP_016861766.1:n.457-74_457-73insCATGAAGGTGTT
NM_000187.4:c.880-74_880-73insCATGAAGGTGTT MANE Select	NP_000178.2:n.880-74_880-73insCATGAAGGTGTT