Canonical Allele Identifier: CA1397109402
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120675165_120675167delinsAAT , CM000665.2:g.120675165_120675167delinsAAT GRCh38
NC_000003.11:g.120394012_120394014delinsAAT , CM000665.1:g.120394012_120394014delinsAAT GRCh37
NC_000003.10:g.121876702_121876704delinsAAT NCBI36
NG_011957.1:g.12315_12317delinsATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.88-178_88-176delinsATT MANE Select ENSP00000283871.5:n.88-178_88-176delinsATT
ENST00000283871.9:c.88-178_88-176delinsATT ENSP00000283871.5:n.88-178_88-176delinsATT
ENST00000466528.5:n.114-178_114-176delinsATT
ENST00000476082.2:c.53+625_53+627delinsATT ENSP00000419560.2:n.53+625_53+627delinsATT
ENST00000480862.1:n.246-178_246-176delinsATT
ENST00000485313.5:n.196-178_196-176delinsATT
ENST00000488183.5:n.346-178_346-176delinsATT
NM_000187.3:c.88-178_88-176delinsATT NP_000178.2:n.88-178_88-176delinsATT
XM_005247412.1:c.88-178_88-176delinsATT XP_005247469.1:n.88-178_88-176delinsATT
XM_005247413.1:c.88-178_88-176delinsATT XP_005247470.1:n.88-178_88-176delinsATT
XM_005247414.3:c.88-178_88-176delinsATT XP_005247471.1:n.88-178_88-176delinsATT
XM_011512746.1:c.88-178_88-176delinsATT XP_011511048.1:n.88-178_88-176delinsATT
XM_005247412.2:c.88-178_88-176delinsATT XP_005247469.1:n.88-178_88-176delinsATT
XM_005247413.2:c.88-178_88-176delinsATT XP_005247470.1:n.88-178_88-176delinsATT
XM_005247414.5:c.88-178_88-176delinsATT XP_005247471.1:n.88-178_88-176delinsATT
XM_011512746.2:c.88-178_88-176delinsATT XP_011511048.1:n.88-178_88-176delinsATT
XM_017006277.2:c.-336-178_-336-176delinsATT XP_016861766.1:n.-336-178_-336-176delinsATT
NM_000187.4:c.88-178_88-176delinsATT MANE Select NP_000178.2:n.88-178_88-176delinsATT