Canonical Allele Identifier: CA2277812814
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108545_80108549delinsTACTC , CM000679.2:g.80108545_80108549delinsTACTC GRCh38
NC_000017.10:g.78082344_78082348delinsTACTC , CM000679.1:g.78082344_78082348delinsTACTC GRCh37
NC_000017.9:g.75696939_75696943delinsTACTC NCBI36
NG_009822.1:g.11990_11994delinsTACTC , LRG_673:g.11990_11994delinsTACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1132_1136delinsTACTC ENSP00000460543.2:p.Tyr378=
ENST00000572080.2:c.1132_1136delinsTACTC ENSP00000459972.2:p.Tyr378=
ENST00000577106.6:c.1132_1136delinsTACTC ENSP00000458306.2:p.Tyr378=
ENST00000302262.8:c.1132_1136delinsTACTC MANE Select ENSP00000305692.3:p.Tyr378=
ENST00000302262.7:c.1132_1136delinsTACTC ENSP00000305692.3:p.Tyr378=
ENST00000390015.7:c.1132_1136delinsTACTC ENSP00000374665.3:p.Tyr378=
NM_000152.3:c.1132_1136delinsTACTC , LRG_673t1:c.1132_1136delinsTACTC NP_000143.2:p.Tyr378=
NM_001079803.1:c.1132_1136delinsTACTC NP_001073271.1:p.Tyr378=
NM_001079804.1:c.1132_1136delinsTACTC NP_001073272.1:p.Tyr378=
XM_005257193.1:c.1132_1136delinsTACTC XP_005257250.1:p.Tyr378=
XM_005257194.3:c.1132_1136delinsTACTC XP_005257251.1:p.Tyr378=
NM_000152.4:c.1132_1136delinsTACTC NP_000143.2:p.Tyr378=
NM_001079803.2:c.1132_1136delinsTACTC NP_001073271.1:p.Tyr378=
NM_001079804.2:c.1132_1136delinsTACTC NP_001073272.1:p.Tyr378=
XM_005257193.2:c.1132_1136delinsTACTC XP_005257250.1:p.Tyr378=
XM_005257194.4:c.1132_1136delinsTACTC XP_005257251.1:p.Tyr378=
NM_000152.5:c.1132_1136delinsTACTC MANE Select NP_000143.2:p.Tyr378=
NM_001079803.3:c.1132_1136delinsTACTC NP_001073271.1:p.Tyr378=
NM_001079804.3:c.1132_1136delinsTACTC NP_001073272.1:p.Tyr378=