Canonical Allele Identifier: CA1397098590
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120650875_120650876delinsAC , CM000665.2:g.120650875_120650876delinsAC GRCh38
NC_000003.11:g.120369722_120369723delinsAC , CM000665.1:g.120369722_120369723delinsAC GRCh37
NC_000003.10:g.121852412_121852413delinsAC NCBI36
NG_011957.1:g.36606_36607delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.343-11_343-10delinsGT MANE Select ENSP00000283871.5:n.343-11_343-10delinsGT...
ENST00000283871.9:c.343-11_343-10delinsGT ENSP00000283871.5:n.343-11_343-10delinsGT...
ENST00000476082.2:c.220-11_220-10delinsGT ENSP00000419560.2:n.220-11_220-10delinsGT...
ENST00000485313.5:n.451-11_451-10delinsGT
NM_000187.3:c.343-11_343-10delinsGT NP_000178.2:n.343-11_343-10delinsGT
XM_005247412.1:c.343-11_343-10delinsGT XP_005247469.1:n.343-11_343-10delinsGT
XM_005247413.1:c.343-11_343-10delinsGT XP_005247470.1:n.343-11_343-10delinsGT
XM_005247414.3:c.343-11_343-10delinsGT XP_005247471.1:n.343-11_343-10delinsGT
XM_011512746.1:c.343-11_343-10delinsGT XP_011511048.1:n.343-11_343-10delinsGT
XM_005247412.2:c.343-11_343-10delinsGT XP_005247469.1:n.343-11_343-10delinsGT
XM_005247413.2:c.343-11_343-10delinsGT XP_005247470.1:n.343-11_343-10delinsGT
XM_005247414.5:c.343-11_343-10delinsGT XP_005247471.1:n.343-11_343-10delinsGT
XM_011512746.2:c.343-11_343-10delinsGT XP_011511048.1:n.343-11_343-10delinsGT
XM_017006277.2:c.-81-11_-81-10delinsGT XP_016861766.1:n.-81-11_-81-10delinsGT
NM_000187.4:c.343-11_343-10delinsGT MANE Select NP_000178.2:n.343-11_343-10delinsGT