Canonical Allele Identifier: CA1397096347

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120645861_120645862delinsCT , CM000665.2:g.120645861_120645862delinsCT	GRCh38
NC_000003.11:g.120364708_120364709delinsCT , CM000665.1:g.120364708_120364709delinsCT	GRCh37
NC_000003.10:g.121847398_121847399delinsCT	NCBI36
NG_011957.1:g.41620_41621delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+405_649+406delinsAG MANE Select	ENSP00000283871.5:n.649+405_649+406delinsAG
ENST00000283871.9:c.649+405_649+406delinsAG	ENSP00000283871.5:n.649+405_649+406delinsAG
ENST00000475447.2:c.180+405_180+406delinsAG
ENST00000492108.5:c.180+1111_180+1112delinsAG	ENSP00000419838.1:n.180+1111_180+1112delinsAG
ENST00000494453.1:c.69+405_69+406delinsAG
NM_000187.3:c.649+405_649+406delinsAG	NP_000178.2:n.649+405_649+406delinsAG
XM_005247412.1:c.549+1111_549+1112delinsAG	XP_005247469.1:n.549+1111_549+1112delinsAG
XM_005247413.1:c.649+405_649+406delinsAG	XP_005247470.1:n.649+405_649+406delinsAG
XM_005247414.3:c.649+405_649+406delinsAG	XP_005247471.1:n.649+405_649+406delinsAG
XM_011512746.1:c.649+405_649+406delinsAG	XP_011511048.1:n.649+405_649+406delinsAG
XM_005247412.2:c.549+1111_549+1112delinsAG	XP_005247469.1:n.549+1111_549+1112delinsAG
XM_005247413.2:c.649+405_649+406delinsAG	XP_005247470.1:n.649+405_649+406delinsAG
XM_005247414.5:c.649+405_649+406delinsAG	XP_005247471.1:n.649+405_649+406delinsAG
XM_011512746.2:c.649+405_649+406delinsAG	XP_011511048.1:n.649+405_649+406delinsAG
XM_017006277.2:c.226+405_226+406delinsAG	XP_016861766.1:n.226+405_226+406delinsAG
NM_000187.4:c.649+405_649+406delinsAG MANE Select	NP_000178.2:n.649+405_649+406delinsAG