Canonical Allele Identifier: CA2695227105

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112924_80112929del , CM000679.2:g.80112924_80112929del	GRCh38
NC_000017.10:g.78086723_78086728del , CM000679.1:g.78086723_78086728del	GRCh37
NC_000017.9:g.75701318_75701323del	NCBI36
NG_009822.1:g.16369_16374del , LRG_673:g.16369_16374del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1937_1942del	ENSP00000460543.2:p.Val646_Cys647del
ENST00000572080.2:c.*75_*80del	ENSP00000459972.2:n.*75_*80del
ENST00000577106.6:c.1937_1942del	ENSP00000458306.2:p.Val646_Cys647del
ENST00000302262.8:c.1937_1942del MANE Select	ENSP00000305692.3:p.Val646_Cys647del
ENST00000302262.7:c.1937_1942del	ENSP00000305692.3:p.Val646_Cys647del
ENST00000390015.7:c.1937_1942del	ENSP00000374665.3:p.Val646_Cys647del
ENST00000570716.1:n.377_382del
ENST00000572080.1:c.356_361del
ENST00000572803.1:n.551_556del
NM_000152.3:c.1937_1942del , LRG_673t1:c.1937_1942del	NP_000143.2:p.Val646_Cys647del
NM_001079803.1:c.1937_1942del	NP_001073271.1:p.Val646_Cys647del
NM_001079804.1:c.1937_1942del	NP_001073272.1:p.Val646_Cys647del
XM_005257193.1:c.1937_1942del	XP_005257250.1:p.Val646_Cys647del
XM_005257194.3:c.1937_1942del	XP_005257251.1:p.Val646_Cys647del
NM_000152.4:c.1937_1942del	NP_000143.2:p.Val646_Cys647del
NM_001079803.2:c.1937_1942del	NP_001073271.1:p.Val646_Cys647del
NM_001079804.2:c.1937_1942del	NP_001073272.1:p.Val646_Cys647del
XM_005257193.2:c.1937_1942del	XP_005257250.1:p.Val646_Cys647del
XM_005257194.4:c.1937_1942del	XP_005257251.1:p.Val646_Cys647del
NM_000152.5:c.1937_1942del MANE Select	NP_000143.2:p.Val646_Cys647del
NM_001079803.3:c.1937_1942del	NP_001073271.1:p.Val646_Cys647del
NM_001079804.3:c.1937_1942del	NP_001073272.1:p.Val646_Cys647del