Canonical Allele Identifier: CA1397109389
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120675137_120675143delinsATGTGAC , CM000665.2:g.120675137_120675143delinsATGTGAC GRCh38
NC_000003.11:g.120393984_120393990delinsATGTGAC , CM000665.1:g.120393984_120393990delinsATGTGAC GRCh37
NC_000003.10:g.121876674_121876680delinsATGTGAC NCBI36
NG_011957.1:g.12339_12345delinsGTCACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.88-154_88-148delinsGTCACAT MANE Select ENSP00000283871.5:n.88-154_88-148delinsGTCACAT
ENST00000283871.9:c.88-154_88-148delinsGTCACAT ENSP00000283871.5:n.88-154_88-148delinsGTCACAT
ENST00000466528.5:n.114-154_114-148delinsGTCACAT
ENST00000476082.2:c.53+649_53+655delinsGTCACAT ENSP00000419560.2:n.53+649_53+655delinsGTCACAT
ENST00000480862.1:n.246-154_246-148delinsGTCACAT
ENST00000485313.5:n.196-154_196-148delinsGTCACAT
ENST00000488183.5:n.346-154_346-148delinsGTCACAT
NM_000187.3:c.88-154_88-148delinsGTCACAT NP_000178.2:n.88-154_88-148delinsGTCACAT
XM_005247412.1:c.88-154_88-148delinsGTCACAT XP_005247469.1:n.88-154_88-148delinsGTCACAT
XM_005247413.1:c.88-154_88-148delinsGTCACAT XP_005247470.1:n.88-154_88-148delinsGTCACAT
XM_005247414.3:c.88-154_88-148delinsGTCACAT XP_005247471.1:n.88-154_88-148delinsGTCACAT
XM_011512746.1:c.88-154_88-148delinsGTCACAT XP_011511048.1:n.88-154_88-148delinsGTCACAT
XM_005247412.2:c.88-154_88-148delinsGTCACAT XP_005247469.1:n.88-154_88-148delinsGTCACAT
XM_005247413.2:c.88-154_88-148delinsGTCACAT XP_005247470.1:n.88-154_88-148delinsGTCACAT
XM_005247414.5:c.88-154_88-148delinsGTCACAT XP_005247471.1:n.88-154_88-148delinsGTCACAT
XM_011512746.2:c.88-154_88-148delinsGTCACAT XP_011511048.1:n.88-154_88-148delinsGTCACAT
XM_017006277.2:c.-336-154_-336-148delinsGTCACAT XP_016861766.1:n.-336-154_-336-148delinsGTCACAT
NM_000187.4:c.88-154_88-148delinsGTCACAT MANE Select NP_000178.2:n.88-154_88-148delinsGTCACAT