Canonical Allele Identifier: CA897921568
Gene: HGD HGNC NCBI

Linked Data

dbSNP Id: rs1168225609

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120652433_120652451del , CM000665.2:g.120652433_120652451del GRCh38
NC_000003.11:g.120371280_120371298del , CM000665.1:g.120371280_120371298del GRCh37
NC_000003.10:g.121853970_121853988del NCBI36
NG_011957.1:g.35031_35049del

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.342+141_342+159del MANE Select ENSP00000283871.5:n.342+141_342+159del
ENST00000283871.9:c.342+141_342+159del ENSP00000283871.5:n.342+141_342+159del
ENST00000476082.2:c.219+141_219+159del ENSP00000419560.2:n.219+141_219+159del
ENST00000485313.5:n.450+141_450+159del
NM_000187.3:c.342+141_342+159del NP_000178.2:n.342+141_342+159del
XM_005247412.1:c.342+141_342+159del XP_005247469.1:n.342+141_342+159del
XM_005247413.1:c.342+141_342+159del XP_005247470.1:n.342+141_342+159del
XM_005247414.3:c.342+141_342+159del XP_005247471.1:n.342+141_342+159del
XM_011512746.1:c.342+141_342+159del XP_011511048.1:n.342+141_342+159del
XM_005247412.2:c.342+141_342+159del XP_005247469.1:n.342+141_342+159del
XM_005247413.2:c.342+141_342+159del XP_005247470.1:n.342+141_342+159del
XM_005247414.5:c.342+141_342+159del XP_005247471.1:n.342+141_342+159del
XM_011512746.2:c.342+141_342+159del XP_011511048.1:n.342+141_342+159del
XM_017006277.2:c.-82+141_-82+159del XP_016861766.1:n.-82+141_-82+159del
NM_000187.4:c.342+141_342+159del MANE Select NP_000178.2:n.342+141_342+159del