Canonical Allele Identifier: CA2629343325

Gene: HEXA

Linked Data

• gnomAD v4: 15-72375717-C-CACCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72375721_72375722insTACCT , CM000677.2:g.72375721_72375722insTACCT	GRCh38
NC_000015.9:g.72668062_72668063insTACCT , CM000677.1:g.72668062_72668063insTACCT	GRCh37
NC_000015.8:g.70455116_70455117insTACCT	NCBI36
NG_009017.1:g.5462_5463insAAGGT
NG_009017.2:g.5462_5463insAAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.266+2_266+3insAAGGT
ENST00000567027.6:c.253+2_253+3insAAGGT
ENST00000568260.2:c.253+2_253+3insAAGGT
ENST00000682061.1:c.253+2_253+3insAAGGT
ENST00000682177.1:c.253+2_253+3insAAGGT
ENST00000682461.1:c.253+2_253+3insAAGGT
ENST00000682653.1:n.284+2_284+3insAAGGT
ENST00000682657.1:c.253+2_253+3insAAGGT
ENST00000682721.1:c.253+2_253+3insAAGGT
ENST00000682843.1:c.253+2_253+3insAAGGT
ENST00000683003.1:c.253+2_253+3insAAGGT
ENST00000683133.1:c.253+2_253+3insAAGGT
ENST00000683228.1:n.284+2_284+3insAAGGT
ENST00000683243.1:c.253+2_253+3insAAGGT
ENST00000683463.1:c.253+2_253+3insAAGGT
ENST00000683548.1:n.284+2_284+3insAAGGT
ENST00000683579.1:c.253+2_253+3insAAGGT
ENST00000683587.1:n.284+2_284+3insAAGGT
ENST00000683681.1:c.253+2_253+3insAAGGT
ENST00000683735.1:c.253+2_253+3insAAGGT
ENST00000683853.1:c.253+2_253+3insAAGGT
ENST00000683860.1:c.253+2_253+3insAAGGT
ENST00000683884.1:c.253+2_253+3insAAGGT
ENST00000684041.1:c.253+2_253+3insAAGGT
ENST00000684125.1:c.253+2_253+3insAAGGT
ENST00000684203.1:n.270+2_270+3insAAGGT
ENST00000684231.1:c.253+2_253+3insAAGGT
ENST00000684263.1:c.253+2_253+3insAAGGT
ENST00000684305.1:c.253+2_253+3insAAGGT
ENST00000684415.1:c.253+2_253+3insAAGGT
ENST00000684520.1:c.253+2_253+3insAAGGT
ENST00000684602.1:c.253+2_253+3insAAGGT
ENST00000684667.1:c.253+2_253+3insAAGGT
ENST00000268097.10:c.253+2_253+3insAAGGT
ENST00000268097.9:c.253+2_253+3insAAGGT
ENST00000379915.4:c.253+2_253+3insAAGGT
ENST00000563762.5:c.253+2_253+3insAAGGT
ENST00000563908.1:n.250+2_250+3insAAGGT
ENST00000566304.5:c.253+2_253+3insAAGGT
ENST00000566672.5:c.253+2_253+3insAAGGT
ENST00000567027.5:c.125+2_125+3insAAGGT
ENST00000567159.5:c.253+2_253+3insAAGGT
ENST00000567213.2:c.253+2_253+3insAAGGT
ENST00000567411.5:c.253+2_253+3insAAGGT
ENST00000568260.1:c.234+2_234+3insAAGGT
ENST00000569410.5:c.253+2_253+3insAAGGT
ENST00000569509.5:n.258+2_258+3insAAGGT
NM_000520.4:c.253+2_253+3insAAGGT
NM_000520.5:c.253+2_253+3insAAGGT
NM_001318825.1:c.253+2_253+3insAAGGT
NR_134869.1:n.754+2_754+3insAAGGT
NM_000520.6:c.253+2_253+3insAAGGT
NM_001318825.2:c.253+2_253+3insAAGGT
NR_134869.2:n.295+2_295+3insAAGGT
NR_134869.3:n.295+2_295+3insAAGGT