Canonical Allele Identifier: CA2640294752

Gene: GAA

Linked Data

• gnomAD v4: 17-80112659-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112660del , CM000679.2:g.80112660del	GRCh38
NC_000017.10:g.78086459del , CM000679.1:g.78086459del	GRCh37
NC_000017.9:g.75701054del	NCBI36
NG_009822.1:g.16105del , LRG_673:g.16105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1837del	ENSP00000460543.2:p.Trp613GlyfsTer?
ENST00000572080.2:c.1837del	ENSP00000459972.2:p.Trp613GlyfsTer?
ENST00000577106.6:c.1837del	ENSP00000458306.2:p.Trp613GlyfsTer?
ENST00000302262.8:c.1837del MANE Select	ENSP00000305692.3:p.Trp613GlyfsTer?
ENST00000302262.7:c.1837del	ENSP00000305692.3:p.Trp613GlyfsTer?
ENST00000390015.7:c.1837del	ENSP00000374665.3:p.Trp613GlyfsTer?
ENST00000570716.1:n.277del
ENST00000572080.1:c.225del
ENST00000572803.1:n.451del
NM_000152.3:c.1837del , LRG_673t1:c.1837del	NP_000143.2:p.Trp613GlyfsTer?
NM_001079803.1:c.1837del	NP_001073271.1:p.Trp613GlyfsTer?
NM_001079804.1:c.1837del	NP_001073272.1:p.Trp613GlyfsTer?
XM_005257193.1:c.1837del	XP_005257250.1:p.Trp613GlyfsTer?
XM_005257194.3:c.1837del	XP_005257251.1:p.Trp613GlyfsTer?
NM_000152.4:c.1837del	NP_000143.2:p.Trp613GlyfsTer?
NM_001079803.2:c.1837del	NP_001073271.1:p.Trp613GlyfsTer?
NM_001079804.2:c.1837del	NP_001073272.1:p.Trp613GlyfsTer?
XM_005257193.2:c.1837del	XP_005257250.1:p.Trp613GlyfsTer?
XM_005257194.4:c.1837del	XP_005257251.1:p.Trp613GlyfsTer?
NM_000152.5:c.1837del MANE Select	NP_000143.2:p.Trp613GlyfsTer?
NM_001079803.3:c.1837del	NP_001073271.1:p.Trp613GlyfsTer?
NM_001079804.3:c.1837del	NP_001073272.1:p.Trp613GlyfsTer?