Canonical Allele Identifier: CA16041907
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs1057516704
gnomAD v4: 17-80118203-TCA-T
MyVariant Identifiers: chr17:g.78092005_78092006del (hg19) chr17:g.80118206_80118207del (hg38)
PubMed: PMID:25741864
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118206_80118207del , CM000679.2:g.80118206_80118207del GRCh38
NC_000017.10:g.78092005_78092006del , CM000679.1:g.78092005_78092006del GRCh37
NC_000017.9:g.75706600_75706601del NCBI36
NG_009822.1:g.21651_21652del , LRG_673:g.21651_21652del

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.2495_2496del ENSP00000460543.2:p.Thr832AsnfsTer?
ENST00000572080.2:c.*633_*634del ENSP00000459972.2:n.*633_*634del
ENST00000577106.6:c.2495_2496del ENSP00000458306.2:p.Thr832AsnfsTer?
ENST00000302262.8:c.2495_2496del MANE Select ENSP00000305692.3:p.Thr832AsnfsTer?
ENST00000302262.7:c.2495_2496del ENSP00000305692.3:p.Thr832AsnfsTer?
ENST00000390015.7:c.2495_2496del ENSP00000374665.3:p.Thr832AsnfsTer?
ENST00000573556.1:n.448_449del
NM_000152.3:c.2495_2496del , LRG_673t1:c.2495_2496del NP_000143.2:p.Thr832AsnfsTer?
NM_001079803.1:c.2495_2496del NP_001073271.1:p.Thr832AsnfsTer?
NM_001079804.1:c.2495_2496del NP_001073272.1:p.Thr832AsnfsTer?
XM_005257193.1:c.2495_2496del XP_005257250.1:p.Thr832AsnfsTer?
XM_005257194.3:c.2495_2496del XP_005257251.1:p.Thr832AsnfsTer?
NM_000152.4:c.2495_2496del NP_000143.2:p.Thr832AsnfsTer?
NM_001079803.2:c.2495_2496del NP_001073271.1:p.Thr832AsnfsTer?
NM_001079804.2:c.2495_2496del NP_001073272.1:p.Thr832AsnfsTer?
XM_005257193.2:c.2495_2496del XP_005257250.1:p.Thr832AsnfsTer?
XM_005257194.4:c.2495_2496del XP_005257251.1:p.Thr832AsnfsTer?
NM_000152.5:c.2495_2496del MANE Select NP_000143.2:p.Thr832AsnfsTer?
NM_001079803.3:c.2495_2496del NP_001073271.1:p.Thr832AsnfsTer?
NM_001079804.3:c.2495_2496del NP_001073272.1:p.Thr832AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'