Canonical Allele Identifier: CA648443408
Gene: HGD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120670646dup , CM000665.2:g.120670646dup GRCh38
NC_000003.11:g.120389493dup , CM000665.1:g.120389493dup GRCh37
NC_000003.10:g.121872183dup NCBI36
NG_011957.1:g.16837dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.177-113dup MANE Select ENSP00000283871.5:n.177-113dup
ENST00000283871.9:c.177-113dup ENSP00000283871.5:n.177-113dup
ENST00000466528.5:n.203-113dup
ENST00000476082.2:c.54-113dup ENSP00000419560.2:n.54-113dup
ENST00000485313.5:n.285-113dup
ENST00000488183.5:n.435-113dup
NM_000187.3:c.177-113dup NP_000178.2:n.177-113dup
XM_005247412.1:c.177-113dup XP_005247469.1:n.177-113dup
XM_005247413.1:c.177-113dup XP_005247470.1:n.177-113dup
XM_005247414.3:c.177-113dup XP_005247471.1:n.177-113dup
XM_011512746.1:c.177-113dup XP_011511048.1:n.177-113dup
XM_005247412.2:c.177-113dup XP_005247469.1:n.177-113dup
XM_005247413.2:c.177-113dup XP_005247470.1:n.177-113dup
XM_005247414.5:c.177-113dup XP_005247471.1:n.177-113dup
XM_011512746.2:c.177-113dup XP_011511048.1:n.177-113dup
XM_017006277.2:c.-247-113dup XP_016861766.1:n.-247-113dup
NM_000187.4:c.177-113dup MANE Select NP_000178.2:n.177-113dup