Canonical Allele Identifier: CA1397109342
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120675048_120675052delinsCACCA , CM000665.2:g.120675048_120675052delinsCACCA GRCh38
NC_000003.11:g.120393895_120393899delinsCACCA , CM000665.1:g.120393895_120393899delinsCACCA GRCh37
NC_000003.10:g.121876585_121876589delinsCACCA NCBI36
NG_011957.1:g.12430_12434delinsTGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.88-63_88-59delinsTGGTG MANE Select ENSP00000283871.5:n.88-63_88-59delinsTGGTG
ENST00000283871.9:c.88-63_88-59delinsTGGTG ENSP00000283871.5:n.88-63_88-59delinsTGGTG
ENST00000466528.5:n.114-63_114-59delinsTGGTG
ENST00000476082.2:c.53+740_53+744delinsTGGTG ENSP00000419560.2:n.53+740_53+744delinsTGGTG
ENST00000480862.1:n.246-63_246-59delinsTGGTG
ENST00000485313.5:n.196-63_196-59delinsTGGTG
ENST00000488183.5:n.346-63_346-59delinsTGGTG
NM_000187.3:c.88-63_88-59delinsTGGTG NP_000178.2:n.88-63_88-59delinsTGGTG
XM_005247412.1:c.88-63_88-59delinsTGGTG XP_005247469.1:n.88-63_88-59delinsTGGTG
XM_005247413.1:c.88-63_88-59delinsTGGTG XP_005247470.1:n.88-63_88-59delinsTGGTG
XM_005247414.3:c.88-63_88-59delinsTGGTG XP_005247471.1:n.88-63_88-59delinsTGGTG
XM_011512746.1:c.88-63_88-59delinsTGGTG XP_011511048.1:n.88-63_88-59delinsTGGTG
XM_005247412.2:c.88-63_88-59delinsTGGTG XP_005247469.1:n.88-63_88-59delinsTGGTG
XM_005247413.2:c.88-63_88-59delinsTGGTG XP_005247470.1:n.88-63_88-59delinsTGGTG
XM_005247414.5:c.88-63_88-59delinsTGGTG XP_005247471.1:n.88-63_88-59delinsTGGTG
XM_011512746.2:c.88-63_88-59delinsTGGTG XP_011511048.1:n.88-63_88-59delinsTGGTG
XM_017006277.2:c.-336-63_-336-59delinsTGGTG XP_016861766.1:n.-336-63_-336-59delinsTGGTG
NM_000187.4:c.88-63_88-59delinsTGGTG MANE Select NP_000178.2:n.88-63_88-59delinsTGGTG