Canonical Allele Identifier: CA2277814257

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80111066_80111068delinsCAG , CM000679.2:g.80111066_80111068delinsCAG	GRCh38
NC_000017.10:g.78084865_78084867delinsCAG , CM000679.1:g.78084865_78084867delinsCAG	GRCh37
NC_000017.9:g.75699460_75699462delinsCAG	NCBI36
NG_009822.1:g.14511_14513delinsCAG , LRG_673:g.14511_14513delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1636+41_1636+43delinsCAG	ENSP00000460543.2:n.1636+41_1636+43delinsCAG
ENST00000572080.2:c.1636+41_1636+43delinsCAG	ENSP00000459972.2:n.1636+41_1636+43delinsCAG
ENST00000577106.6:c.1636+41_1636+43delinsCAG	ENSP00000458306.2:n.1636+41_1636+43delinsCAG
ENST00000302262.8:c.1636+41_1636+43delinsCAG MANE Select	ENSP00000305692.3:n.1636+41_1636+43delinsCAG
ENST00000302262.7:c.1636+41_1636+43delinsCAG	ENSP00000305692.3:n.1636+41_1636+43delinsCAG
ENST00000390015.7:c.1636+41_1636+43delinsCAG	ENSP00000374665.3:n.1636+41_1636+43delinsCAG
ENST00000572080.1:c.24+41_24+43delinsCAG
NM_000152.3:c.1636+41_1636+43delinsCAG , LRG_673t1:c.1636+41_1636+43delinsCAG	NP_000143.2:n.1636+41_1636+43delinsCAG
NM_001079803.1:c.1636+41_1636+43delinsCAG	NP_001073271.1:n.1636+41_1636+43delinsCAG
NM_001079804.1:c.1636+41_1636+43delinsCAG	NP_001073272.1:n.1636+41_1636+43delinsCAG
XM_005257193.1:c.1636+41_1636+43delinsCAG	XP_005257250.1:n.1636+41_1636+43delinsCAG
XM_005257194.3:c.1636+41_1636+43delinsCAG	XP_005257251.1:n.1636+41_1636+43delinsCAG
NM_000152.4:c.1636+41_1636+43delinsCAG	NP_000143.2:n.1636+41_1636+43delinsCAG
NM_001079803.2:c.1636+41_1636+43delinsCAG	NP_001073271.1:n.1636+41_1636+43delinsCAG
NM_001079804.2:c.1636+41_1636+43delinsCAG	NP_001073272.1:n.1636+41_1636+43delinsCAG
XM_005257193.2:c.1636+41_1636+43delinsCAG	XP_005257250.1:n.1636+41_1636+43delinsCAG
XM_005257194.4:c.1636+41_1636+43delinsCAG	XP_005257251.1:n.1636+41_1636+43delinsCAG
NM_000152.5:c.1636+41_1636+43delinsCAG MANE Select	NP_000143.2:n.1636+41_1636+43delinsCAG
NM_001079803.3:c.1636+41_1636+43delinsCAG	NP_001073271.1:n.1636+41_1636+43delinsCAG
NM_001079804.3:c.1636+41_1636+43delinsCAG	NP_001073272.1:n.1636+41_1636+43delinsCAG