Canonical Allele Identifier: CA1397109427
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120675198_120675201delinsTATG , CM000665.2:g.120675198_120675201delinsTATG GRCh38
NC_000003.11:g.120394045_120394048delinsTATG , CM000665.1:g.120394045_120394048delinsTATG GRCh37
NC_000003.10:g.121876735_121876738delinsTATG NCBI36
NG_011957.1:g.12281_12284delinsCATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.88-212_88-209delinsCATA MANE Select ENSP00000283871.5:n.88-212_88-209delinsCATA
ENST00000283871.9:c.88-212_88-209delinsCATA ENSP00000283871.5:n.88-212_88-209delinsCATA
ENST00000466528.5:n.114-212_114-209delinsCATA
ENST00000476082.2:c.53+591_53+594delinsCATA ENSP00000419560.2:n.53+591_53+594delinsCATA
ENST00000480862.1:n.246-212_246-209delinsCATA
ENST00000485313.5:n.196-212_196-209delinsCATA
ENST00000488183.5:n.346-212_346-209delinsCATA
NM_000187.3:c.88-212_88-209delinsCATA NP_000178.2:n.88-212_88-209delinsCATA
XM_005247412.1:c.88-212_88-209delinsCATA XP_005247469.1:n.88-212_88-209delinsCATA
XM_005247413.1:c.88-212_88-209delinsCATA XP_005247470.1:n.88-212_88-209delinsCATA
XM_005247414.3:c.88-212_88-209delinsCATA XP_005247471.1:n.88-212_88-209delinsCATA
XM_011512746.1:c.88-212_88-209delinsCATA XP_011511048.1:n.88-212_88-209delinsCATA
XM_005247412.2:c.88-212_88-209delinsCATA XP_005247469.1:n.88-212_88-209delinsCATA
XM_005247413.2:c.88-212_88-209delinsCATA XP_005247470.1:n.88-212_88-209delinsCATA
XM_005247414.5:c.88-212_88-209delinsCATA XP_005247471.1:n.88-212_88-209delinsCATA
XM_011512746.2:c.88-212_88-209delinsCATA XP_011511048.1:n.88-212_88-209delinsCATA
XM_017006277.2:c.-336-212_-336-209delinsCATA XP_016861766.1:n.-336-212_-336-209delinsCATA
NM_000187.4:c.88-212_88-209delinsCATA MANE Select NP_000178.2:n.88-212_88-209delinsCATA