Canonical Allele Identifier: CA1052822430

Gene: HGD

Linked Data

• dbSNP Id: rs1941171482
• gnomAD v3: 3-120646582-CAT-C
• gnomAD v4: 3-120646582-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646583_120646584del , CM000665.2:g.120646583_120646584del	GRCh38
NC_000003.11:g.120365430_120365431del , CM000665.1:g.120365430_120365431del	GRCh37
NC_000003.10:g.121848120_121848121del	NCBI36
NG_011957.1:g.40898_40899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-218_550-217del MANE Select	ENSP00000283871.5:n.550-218_550-217del
ENST00000283871.9:c.550-218_550-217del	ENSP00000283871.5:n.550-218_550-217del
ENST00000475447.2:c.81-218_81-217del
ENST00000492108.5:c.180+389_180+390del	ENSP00000419838.1:n.180+389_180+390del
NM_000187.3:c.550-218_550-217del	NP_000178.2:n.550-218_550-217del
XM_005247412.1:c.549+389_549+390del	XP_005247469.1:n.549+389_549+390del
XM_005247413.1:c.550-218_550-217del	XP_005247470.1:n.550-218_550-217del
XM_005247414.3:c.550-218_550-217del	XP_005247471.1:n.550-218_550-217del
XM_011512746.1:c.550-218_550-217del	XP_011511048.1:n.550-218_550-217del
XM_005247412.2:c.549+389_549+390del	XP_005247469.1:n.549+389_549+390del
XM_005247413.2:c.550-218_550-217del	XP_005247470.1:n.550-218_550-217del
XM_005247414.5:c.550-218_550-217del	XP_005247471.1:n.550-218_550-217del
XM_011512746.2:c.550-218_550-217del	XP_011511048.1:n.550-218_550-217del
XM_017006277.2:c.127-218_127-217del	XP_016861766.1:n.127-218_127-217del
NM_000187.4:c.550-218_550-217del MANE Select	NP_000178.2:n.550-218_550-217del