Canonical Allele Identifier: CA2277809033

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101645_80101675delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT , CM000679.2:g.80101645_80101675delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	GRCh38
NC_000017.10:g.78075444_78075474delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT , CM000679.1:g.78075444_78075474delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	GRCh37
NC_000017.9:g.75690039_75690069delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NCBI36
NG_009822.1:g.5090_5120delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT , LRG_673:g.5090_5120delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT
NG_029761.1:g.70014_70044delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	ENSP00000460543.2:n.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGC...
ENST00000572080.2:c.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	ENSP00000459972.2:n.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGG...
ENST00000577106.6:c.-148+20_-148+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	ENSP00000458306.2:n.-148+20_-148+50delinsCGGGGCTTCCCTGAGCGCGG...
ENST00000302262.8:c.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT MANE Select	ENSP00000305692.3:n.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGG...
ENST00000390015.7:c.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	ENSP00000374665.3:n.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGG...
ENST00000570803.5:c.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	ENSP00000460543.1:n.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGC...
ENST00000574376.1:n.29+20_29+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT
ENST00000577106.5:c.-148+20_-148+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	ENSP00000458306.1:n.-148+20_-148+50delinsCGGGGCTTCCCTGAGCGCGG...
NM_000152.3:c.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT , LRG_673t1:c.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NP_000143.2:n.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT
NM_001079803.1:c.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NP_001073271.1:n.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGGGCC...
NM_001079804.1:c.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NP_001073272.1:n.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGCCGG...
XM_005257193.1:c.-188_-158delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	XP_005257250.1:n.-188_-158delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCG...
XM_005257194.3:c.-148+20_-148+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	XP_005257251.1:n.-148+20_-148+50delinsCGGGGCTTCCCTGAGCGCGGGCC...
NM_000152.4:c.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NP_000143.2:n.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT
NM_001079803.2:c.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NP_001073271.1:n.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGGGCC...
NM_001079804.2:c.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NP_001073272.1:n.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGCCGG...
NR_134848.1:n.100+20_100+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT
XM_005257193.2:c.-188_-158delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	XP_005257250.1:n.-188_-158delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCG...
XM_005257194.4:c.-148+20_-148+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	XP_005257251.1:n.-148+20_-148+50delinsCGGGGCTTCCCTGAGCGCGGGCC...
NM_000152.5:c.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT MANE Select	NP_000143.2:n.-278_-248delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT
NM_001079803.3:c.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NP_001073271.1:n.-113+20_-113+50delinsCGGGGCTTCCCTGAGCGCGGGCC...
NM_001079804.3:c.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT	NP_001073272.1:n.-33+20_-33+50delinsCGGGGCTTCCCTGAGCGCGGGCCGG...
NR_134848.2:n.45+20_45+50delinsCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT