Canonical Allele Identifier: CA715469401

Gene: HEXA

Linked Data

• dbSNP Id: rs1191032470
• gnomAD v3: 15-72343546-T-TG
• gnomAD v4: 15-72343546-T-TG
• MyVariant Identifiers: chr15:g.72635887_72635888insG (hg19) ; chr15:g.72343546_72343547insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343551dup , CM000677.2:g.72343551dup	GRCh38
NC_000015.9:g.72635892dup , CM000677.1:g.72635892dup	GRCh37
NC_000015.8:g.70422946dup	NCBI36
NG_009017.1:g.37633dup
NG_009017.2:g.37633dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2347dup
ENST00000682235.1:n.2143dup
ENST00000682461.1:c.2226dup	ENSP00000507308.1:n.2226dup
ENST00000682653.1:n.4429dup
ENST00000682721.1:c.*1923dup	ENSP00000507535.1:n.*1923dup
ENST00000682843.1:c.*1761dup	ENSP00000508173.1:n.*1761dup
ENST00000683133.1:c.2304dup	ENSP00000508108.1:n.2304dup
ENST00000683243.1:c.*1273dup	ENSP00000507042.1:n.*1273dup
ENST00000683463.1:c.*1609dup	ENSP00000507986.1:n.*1609dup
ENST00000683548.1:n.2578dup
ENST00000683579.1:c.*2018dup	ENSP00000506867.1:n.*2018dup
ENST00000683587.1:n.2651dup
ENST00000683735.1:c.*2518dup	ENSP00000508336.1:n.*2518dup
ENST00000683853.1:c.*2230dup	ENSP00000506834.1:n.*2230dup
ENST00000684125.1:c.*780dup	ENSP00000507320.1:n.*780dup
ENST00000684203.1:n.4569dup
ENST00000684231.1:c.*1530dup	ENSP00000507748.1:n.*1530dup
ENST00000684263.1:c.*1744dup	ENSP00000508369.1:n.*1744dup
ENST00000684305.1:c.2568dup	ENSP00000506819.1:n.2568dup
ENST00000684602.1:c.*1786dup	ENSP00000507996.1:n.*1786dup
ENST00000684667.1:c.2451dup	ENSP00000507003.1:n.2451dup
ENST00000268097.10:c.*530dup MANE Select	ENSP00000268097.6:n.*530dup
ENST00000268097.9:c.*530dup	ENSP00000268097.5:n.*530dup
ENST00000379915.4:c.608+1899dup	ENSP00000478716.1:n.608+1899dup
NM_000520.4:c.*530dup	NP_000511.2:n.*530dup
NM_000520.5:c.*530dup	NP_000511.2:n.*530dup
NM_001318825.1:c.*530dup	NP_001305754.1:n.*530dup
NM_000520.6:c.*530dup MANE Select	NP_000511.2:n.*530dup
NM_001318825.2:c.*530dup	NP_001305754.1:n.*530dup