Canonical Allele Identifier: CA2703858157

Gene: HGD

Linked Data

• dbSNP Id: rs2107548902

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670534_120670535insTCTCTTATTGGTGCTCCGTGGACA , CM000665.2:g.120670534_120670535insTCTCTTATTGGTGCTCCGTGGACA	GRCh38
NC_000003.11:g.120389381_120389382insTCTCTTATTGGTGCTCCGTGGACA , CM000665.1:g.120389381_120389382insTCTCTTATTGGTGCTCCGTGGACA	GRCh37
NC_000003.10:g.121872071_121872072insTCTCTTATTGGTGCTCCGTGGACA	NCBI36
NG_011957.1:g.16947_16948insTGTCCACGGAGCACCAATAAGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA MANE Select	ENSP00000283871.5:n.177-3_177-2insTGTCCAC...
ENST00000283871.9:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	ENSP00000283871.5:n.177-3_177-2insTGTCCAC...
ENST00000466528.5:n.203-3_203-2insTGTCCACGGAGCACCAATAAGAGA
ENST00000476082.2:c.54-3_54-2insTGTCCACGGAGCACCAATAAGAGA	ENSP00000419560.2:n.54-3_54-2insTGTCCACGG...
ENST00000485313.5:n.285-3_285-2insTGTCCACGGAGCACCAATAAGAGA
ENST00000488183.5:n.435-3_435-2insTGTCCACGGAGCACCAATAAGAGA
NM_000187.3:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	NP_000178.2:n.177-3_177-2insTGTCCACGGAGCA...
XM_005247412.1:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	XP_005247469.1:n.177-3_177-2insTGTCCACGGA...
XM_005247413.1:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	XP_005247470.1:n.177-3_177-2insTGTCCACGGA...
XM_005247414.3:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	XP_005247471.1:n.177-3_177-2insTGTCCACGGA...
XM_011512746.1:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	XP_011511048.1:n.177-3_177-2insTGTCCACGGA...
XM_005247412.2:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	XP_005247469.1:n.177-3_177-2insTGTCCACGGA...
XM_005247413.2:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	XP_005247470.1:n.177-3_177-2insTGTCCACGGA...
XM_005247414.5:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	XP_005247471.1:n.177-3_177-2insTGTCCACGGA...
XM_011512746.2:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA	XP_011511048.1:n.177-3_177-2insTGTCCACGGA...
XM_017006277.2:c.-247-3_-247-2insTGTCCACGGAGCACCAATAAGAGA	XP_016861766.1:n.-247-3_-247-2insTGTCCACG...
NM_000187.4:c.177-3_177-2insTGTCCACGGAGCACCAATAAGAGA MANE Select	NP_000178.2:n.177-3_177-2insTGTCCACGGAGCA...