Canonical Allele Identifier: CA1397109424
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120675188_120675195delinsGTATAAAC , CM000665.2:g.120675188_120675195delinsGTATAAAC GRCh38
NC_000003.11:g.120394035_120394042delinsGTATAAAC , CM000665.1:g.120394035_120394042delinsGTATAAAC GRCh37
NC_000003.10:g.121876725_121876732delinsGTATAAAC NCBI36
NG_011957.1:g.12287_12294delinsGTTTATAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.88-206_88-199delinsGTTTATAC MANE Select ENSP00000283871.5:n.88-206_88-199delinsGTTTATAC
ENST00000283871.9:c.88-206_88-199delinsGTTTATAC ENSP00000283871.5:n.88-206_88-199delinsGTTTATAC
ENST00000466528.5:n.114-206_114-199delinsGTTTATAC
ENST00000476082.2:c.53+597_53+604delinsGTTTATAC ENSP00000419560.2:n.53+597_53+604delinsGTTTATAC
ENST00000480862.1:n.246-206_246-199delinsGTTTATAC
ENST00000485313.5:n.196-206_196-199delinsGTTTATAC
ENST00000488183.5:n.346-206_346-199delinsGTTTATAC
NM_000187.3:c.88-206_88-199delinsGTTTATAC NP_000178.2:n.88-206_88-199delinsGTTTATAC
XM_005247412.1:c.88-206_88-199delinsGTTTATAC XP_005247469.1:n.88-206_88-199delinsGTTTATAC
XM_005247413.1:c.88-206_88-199delinsGTTTATAC XP_005247470.1:n.88-206_88-199delinsGTTTATAC
XM_005247414.3:c.88-206_88-199delinsGTTTATAC XP_005247471.1:n.88-206_88-199delinsGTTTATAC
XM_011512746.1:c.88-206_88-199delinsGTTTATAC XP_011511048.1:n.88-206_88-199delinsGTTTATAC
XM_005247412.2:c.88-206_88-199delinsGTTTATAC XP_005247469.1:n.88-206_88-199delinsGTTTATAC
XM_005247413.2:c.88-206_88-199delinsGTTTATAC XP_005247470.1:n.88-206_88-199delinsGTTTATAC
XM_005247414.5:c.88-206_88-199delinsGTTTATAC XP_005247471.1:n.88-206_88-199delinsGTTTATAC
XM_011512746.2:c.88-206_88-199delinsGTTTATAC XP_011511048.1:n.88-206_88-199delinsGTTTATAC
XM_017006277.2:c.-336-206_-336-199delinsGTTTATAC XP_016861766.1:n.-336-206_-336-199delinsGTTTATAC
NM_000187.4:c.88-206_88-199delinsGTTTATAC MANE Select NP_000178.2:n.88-206_88-199delinsGTTTATAC