Canonical Allele Identifier: CA618961250

Gene: HEXA

Linked Data

• ClinVar Variation Id: 554678
• ClinVar RCV Id: RCV000670353
• dbSNP Id: rs1467732394
• gnomAD v2: 15-72638991-CCTT-C
• gnomAD v3: 15-72346650-CCTT-C
• gnomAD v4: 15-72346650-CCTT-C
• MyVariant Identifiers: chr15:g.72638992_72638994del (hg19) ; chr15:g.72346651_72346653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346652_72346654del , CM000677.2:g.72346652_72346654del	GRCh38
NC_000015.9:g.72638993_72638995del , CM000677.1:g.72638993_72638995del	GRCh37
NC_000015.8:g.70426047_70426049del	NCBI36
NG_009017.1:g.34527_34529del
NG_009017.2:g.34527_34529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-328_1074-326del	ENSP00000457521.2:n.1074-328_1074-326del
ENST00000682061.1:c.*866_*868del	ENSP00000508316.1:n.*866_*868del
ENST00000682064.1:n.546_548del
ENST00000682177.1:c.1247_1249del	ENSP00000507409.1:n.1247_1249del
ENST00000682235.1:n.543_545del
ENST00000682461.1:c.1310_1312del	ENSP00000507308.1:n.1310_1312del
ENST00000682653.1:n.1524_1526del
ENST00000682657.1:c.*484-328_*484-326del	ENSP00000507753.1:n.*484-328_*484-326del
ENST00000682721.1:c.*1007_*1009del	ENSP00000507535.1:n.*1007_*1009del
ENST00000682843.1:c.*972-328_*972-326del	ENSP00000508173.1:n.*972-328_*972-326del
ENST00000683003.1:c.*484-328_*484-326del	ENSP00000507576.1:n.*484-328_*484-326del
ENST00000683133.1:c.1388_1390del	ENSP00000508108.1:n.1388_1390del
ENST00000683243.1:c.*484-328_*484-326del	ENSP00000507042.1:n.*484-328_*484-326del
ENST00000683463.1:c.*9_*11del	ENSP00000507986.1:n.*9_*11del
ENST00000683548.1:n.1105-328_1105-326del
ENST00000683579.1:c.*1102_*1104del	ENSP00000506867.1:n.*1102_*1104del
ENST00000683587.1:n.1178-328_1178-326del
ENST00000683681.1:c.1204_1206del	ENSP00000508110.1:p.Lys402del
ENST00000683735.1:c.*1045-328_*1045-326del	ENSP00000508336.1:n.*1045-328_*1045-326del
ENST00000683853.1:c.*9_*11del	ENSP00000506834.1:n.*9_*11del
ENST00000683860.1:c.1204_1206del	ENSP00000507179.1:p.Lys402del
ENST00000683884.1:c.1147-328_1147-326del	ENSP00000507004.1:n.1147-328_1147-326del
ENST00000684041.1:c.1204_1206del	ENSP00000508382.1:p.Lys402del
ENST00000684125.1:c.1074-328_1074-326del	ENSP00000507320.1:n.1074-328_1074-326del
ENST00000684203.1:n.2969_2971del
ENST00000684231.1:c.*614_*616del	ENSP00000507748.1:n.*614_*616del
ENST00000684263.1:c.*144_*146del	ENSP00000508369.1:n.*144_*146del
ENST00000684305.1:c.1652_1654del	ENSP00000506819.1:n.1652_1654del
ENST00000684415.1:c.*71_*73del	ENSP00000507227.1:n.*71_*73del
ENST00000684520.1:c.1204_1206del	ENSP00000506826.1:p.Lys402del
ENST00000684602.1:c.*870_*872del	ENSP00000507996.1:n.*870_*872del
ENST00000684667.1:c.1535_1537del	ENSP00000507003.1:n.1535_1537del
ENST00000268097.10:c.1204_1206del MANE Select	ENSP00000268097.6:p.Lys402del
ENST00000268097.9:c.1204_1206del	ENSP00000268097.5:p.Lys402del
ENST00000379915.4:c.413-328_413-326del	ENSP00000478716.1:n.413-328_413-326del
ENST00000563762.5:c.826-328_826-326del	ENSP00000456346.1:n.826-328_826-326del
ENST00000566304.5:c.1237_1239del	ENSP00000455114.1:p.Lys413del
ENST00000566672.5:c.*614_*616del	ENSP00000457037.1:n.*614_*616del
ENST00000567027.5:c.946-328_946-326del
ENST00000567159.5:c.1204_1206del	ENSP00000456489.1:p.Lys402del
ENST00000567411.5:c.*725_*727del	ENSP00000455545.1:n.*725_*727del
ENST00000568777.5:n.6551-328_6551-326del
ENST00000569410.5:c.*9_*11del	ENSP00000457125.1:n.*9_*11del
NM_000520.4:c.1204_1206del	NP_000511.2:p.Lys402del
NM_000520.5:c.1204_1206del	NP_000511.2:p.Lys402del
NM_001318825.1:c.1237_1239del	NP_001305754.1:p.Lys413del
NR_134869.1:n.1575-328_1575-326del
NM_000520.6:c.1204_1206del MANE Select	NP_000511.2:p.Lys402del
NM_001318825.2:c.1237_1239del	NP_001305754.1:p.Lys413del
NR_134869.2:n.1116-328_1116-326del
NR_134869.3:n.1116-328_1116-326del