Canonical Allele Identifier: CA891834514

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118307del , CM000679.2:g.80118307del	GRCh38
NC_000017.10:g.78092106del , CM000679.1:g.78092106del	GRCh37
NC_000017.9:g.75706701del	NCBI36
NG_009822.1:g.21752del , LRG_673:g.21752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2596del	ENSP00000460543.2:p.Glu866LysfsTer21
ENST00000572080.2:c.*734del	ENSP00000459972.2:n.*734del
ENST00000577106.6:c.2596del	ENSP00000458306.2:p.Glu866LysfsTer21
ENST00000302262.8:c.2596del MANE Select	ENSP00000305692.3:p.Glu866LysfsTer21
ENST00000302262.7:c.2596del	ENSP00000305692.3:p.Glu866LysfsTer21
ENST00000390015.7:c.2596del	ENSP00000374665.3:p.Glu866LysfsTer21
ENST00000573556.1:n.549del
NM_000152.3:c.2596del , LRG_673t1:c.2596del	NP_000143.2:p.Glu866LysfsTer21
NM_001079803.1:c.2596del	NP_001073271.1:p.Glu866LysfsTer21
NM_001079804.1:c.2596del	NP_001073272.1:p.Glu866LysfsTer21
XM_005257193.1:c.2596del	XP_005257250.1:p.Glu866LysfsTer21
XM_005257194.3:c.2596del	XP_005257251.1:p.Glu866LysfsTer21
NM_000152.4:c.2596del	NP_000143.2:p.Glu866LysfsTer21
NM_001079803.2:c.2596del	NP_001073271.1:p.Glu866LysfsTer21
NM_001079804.2:c.2596del	NP_001073272.1:p.Glu866LysfsTer21
XM_005257193.2:c.2596del	XP_005257250.1:p.Glu866LysfsTer21
XM_005257194.4:c.2596del	XP_005257251.1:p.Glu866LysfsTer21
NM_000152.5:c.2596del MANE Select	NP_000143.2:p.Glu866LysfsTer21
NM_001079803.3:c.2596del	NP_001073271.1:p.Glu866LysfsTer21
NM_001079804.3:c.2596del	NP_001073272.1:p.Glu866LysfsTer21