Canonical Allele Identifier: CA1397096689

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646582_120646584delinsCAT , CM000665.2:g.120646582_120646584delinsCAT	GRCh38
NC_000003.11:g.120365429_120365431delinsCAT , CM000665.1:g.120365429_120365431delinsCAT	GRCh37
NC_000003.10:g.121848119_121848121delinsCAT	NCBI36
NG_011957.1:g.40898_40900delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-218_550-216delinsATG MANE Select	ENSP00000283871.5:n.550-218_550-216delinsATG
ENST00000283871.9:c.550-218_550-216delinsATG	ENSP00000283871.5:n.550-218_550-216delinsATG
ENST00000475447.2:c.81-218_81-216delinsATG
ENST00000492108.5:c.180+389_180+391delinsATG	ENSP00000419838.1:n.180+389_180+391delinsATG
NM_000187.3:c.550-218_550-216delinsATG	NP_000178.2:n.550-218_550-216delinsATG
XM_005247412.1:c.549+389_549+391delinsATG	XP_005247469.1:n.549+389_549+391delinsATG
XM_005247413.1:c.550-218_550-216delinsATG	XP_005247470.1:n.550-218_550-216delinsATG
XM_005247414.3:c.550-218_550-216delinsATG	XP_005247471.1:n.550-218_550-216delinsATG
XM_011512746.1:c.550-218_550-216delinsATG	XP_011511048.1:n.550-218_550-216delinsATG
XM_005247412.2:c.549+389_549+391delinsATG	XP_005247469.1:n.549+389_549+391delinsATG
XM_005247413.2:c.550-218_550-216delinsATG	XP_005247470.1:n.550-218_550-216delinsATG
XM_005247414.5:c.550-218_550-216delinsATG	XP_005247471.1:n.550-218_550-216delinsATG
XM_011512746.2:c.550-218_550-216delinsATG	XP_011511048.1:n.550-218_550-216delinsATG
XM_017006277.2:c.127-218_127-216delinsATG	XP_016861766.1:n.127-218_127-216delinsATG
NM_000187.4:c.550-218_550-216delinsATG MANE Select	NP_000178.2:n.550-218_550-216delinsATG