Canonical Allele Identifier: CA2629343679

Gene: HEXA

Linked Data

• gnomAD v4: 15-72375869-T-TGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72375870_72375871insCGG , CM000677.2:g.72375870_72375871insCGG	GRCh38
NC_000015.9:g.72668211_72668212insCGG , CM000677.1:g.72668211_72668212insCGG	GRCh37
NC_000015.8:g.70455265_70455266insCGG	NCBI36
NG_009017.1:g.5310_5311insCGC
NG_009017.2:g.5310_5311insCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.116_117insCGC
ENST00000567027.6:c.103_104insCGC	ENSP00000457521.2:p.Asp34_Gln35insPro
ENST00000568260.2:c.103_104insCGC	ENSP00000458128.2:p.Asp34_Gln35insPro
ENST00000682061.1:c.103_104insCGC	ENSP00000508316.1:p.Asp34_Gln35insPro
ENST00000682177.1:c.103_104insCGC	ENSP00000507409.1:p.Asp34_Gln35insPro
ENST00000682461.1:c.103_104insCGC	ENSP00000507308.1:p.Asp34_Gln35insPro
ENST00000682653.1:n.134_135insCGC
ENST00000682657.1:c.103_104insCGC	ENSP00000507753.1:p.Asp34_Gln35insPro
ENST00000682721.1:c.103_104insCGC	ENSP00000507535.1:p.Asp34_Gln35insPro
ENST00000682843.1:c.103_104insCGC	ENSP00000508173.1:p.Asp34_Gln35insPro
ENST00000683003.1:c.103_104insCGC	ENSP00000507576.1:p.Asp34_Gln35insPro
ENST00000683133.1:c.103_104insCGC	ENSP00000508108.1:p.Asp34_Gln35insPro
ENST00000683228.1:n.134_135insCGC
ENST00000683243.1:c.103_104insCGC	ENSP00000507042.1:p.Asp34_Gln35insPro
ENST00000683463.1:c.103_104insCGC	ENSP00000507986.1:p.Asp34_Gln35insPro
ENST00000683548.1:n.134_135insCGC
ENST00000683579.1:c.103_104insCGC	ENSP00000506867.1:p.Asp34_Gln35insPro
ENST00000683587.1:n.134_135insCGC
ENST00000683681.1:c.103_104insCGC	ENSP00000508110.1:p.Asp34_Gln35insPro
ENST00000683735.1:c.103_104insCGC	ENSP00000508336.1:p.Asp34_Gln35insPro
ENST00000683853.1:c.103_104insCGC	ENSP00000506834.1:p.Asp34_Gln35insPro
ENST00000683860.1:c.103_104insCGC	ENSP00000507179.1:p.Asp34_Gln35insPro
ENST00000683884.1:c.103_104insCGC	ENSP00000507004.1:p.Asp34_Gln35insPro
ENST00000684041.1:c.103_104insCGC	ENSP00000508382.1:p.Asp34_Gln35insPro
ENST00000684125.1:c.103_104insCGC	ENSP00000507320.1:p.Asp34_Gln35insPro
ENST00000684203.1:n.120_121insCGC
ENST00000684231.1:c.103_104insCGC	ENSP00000507748.1:p.Asp34_Gln35insPro
ENST00000684263.1:c.103_104insCGC	ENSP00000508369.1:p.Asp34_Gln35insPro
ENST00000684305.1:c.103_104insCGC	ENSP00000506819.1:p.Asp34_Gln35insPro
ENST00000684415.1:c.103_104insCGC	ENSP00000507227.1:p.Asp34_Gln35insPro
ENST00000684520.1:c.103_104insCGC	ENSP00000506826.1:p.Asp34_Gln35insPro
ENST00000684602.1:c.103_104insCGC	ENSP00000507996.1:p.Asp34_Gln35insPro
ENST00000684667.1:c.103_104insCGC	ENSP00000507003.1:p.Asp34_Gln35insPro
ENST00000268097.10:c.103_104insCGC MANE Select	ENSP00000268097.6:p.Asp34_Gln35insPro
ENST00000268097.9:c.103_104insCGC	ENSP00000268097.5:p.Asp34_Gln35insPro
ENST00000379915.4:c.103_104insCGC	ENSP00000478716.1:p.Asp34_Gln35insPro
ENST00000563762.5:c.103_104insCGC	ENSP00000456346.1:p.Asp34_Gln35insPro
ENST00000563908.1:n.100_101insCGC
ENST00000566304.5:c.103_104insCGC	ENSP00000455114.1:p.Asp34_Gln35insPro
ENST00000566672.5:c.103_104insCGC	ENSP00000457037.1:p.Asp34_Gln35insPro
ENST00000567159.5:c.103_104insCGC	ENSP00000456489.1:p.Asp34_Gln35insPro
ENST00000567213.2:c.103_104insCGC	ENSP00000478217.1:p.Asp34_Gln35insPro
ENST00000567411.5:c.103_104insCGC	ENSP00000455545.1:p.Asp34_Gln35insPro
ENST00000568260.1:c.84_85insCGC
ENST00000569410.5:c.103_104insCGC	ENSP00000457125.1:p.Asp34_Gln35insPro
ENST00000569509.5:n.147-39_147-38insCGC
NM_000520.4:c.103_104insCGC	NP_000511.2:p.Asp34_Gln35insPro
NM_000520.5:c.103_104insCGC	NP_000511.2:p.Asp34_Gln35insPro
NM_001318825.1:c.103_104insCGC	NP_001305754.1:p.Asp34_Gln35insPro
NR_134869.1:n.604_605insCGC
NM_000520.6:c.103_104insCGC MANE Select	NP_000511.2:p.Asp34_Gln35insPro
NM_001318825.2:c.103_104insCGC	NP_001305754.1:p.Asp34_Gln35insPro
NR_134869.2:n.145_146insCGC
NR_134869.3:n.145_146insCGC