Canonical Allele Identifier: CA502402723

Gene: GAA

Linked Data

• MyVariant Identifiers: chr17:g.78081545_78081546insCGGGCGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107746_80107747insCGGGCGG , CM000679.2:g.80107746_80107747insCGGGCGG	GRCh38
NC_000017.10:g.78081545_78081546insCGGGCGG , CM000679.1:g.78081545_78081546insCGGGCGG	GRCh37
NC_000017.9:g.75696140_75696141insCGGGCGG	NCBI36
NG_009822.1:g.11191_11192insCGGGCGG , LRG_673:g.11191_11192insCGGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.858+24_858+25insCGGGCGG	ENSP00000460543.2:n.858+24_858+25insCGGGCGG
ENST00000572080.2:c.858+24_858+25insCGGGCGG	ENSP00000459972.2:n.858+24_858+25insCGGGCGG
ENST00000577106.6:c.858+24_858+25insCGGGCGG	ENSP00000458306.2:n.858+24_858+25insCGGGCGG
ENST00000302262.8:c.858+24_858+25insCGGGCGG MANE Select	ENSP00000305692.3:n.858+24_858+25insCGGGCGG
ENST00000302262.7:c.858+24_858+25insCGGGCGG	ENSP00000305692.3:n.858+24_858+25insCGGGCGG
ENST00000390015.7:c.858+24_858+25insCGGGCGG	ENSP00000374665.3:n.858+24_858+25insCGGGCGG
NM_000152.3:c.858+24_858+25insCGGGCGG , LRG_673t1:c.858+24_858+25insCGGGCGG	NP_000143.2:n.858+24_858+25insCGGGCGG
NM_001079803.1:c.858+24_858+25insCGGGCGG	NP_001073271.1:n.858+24_858+25insCGGGCGG
NM_001079804.1:c.858+24_858+25insCGGGCGG	NP_001073272.1:n.858+24_858+25insCGGGCGG
XM_005257193.1:c.858+24_858+25insCGGGCGG	XP_005257250.1:n.858+24_858+25insCGGGCGG
XM_005257194.3:c.858+24_858+25insCGGGCGG	XP_005257251.1:n.858+24_858+25insCGGGCGG
NM_000152.4:c.858+24_858+25insCGGGCGG	NP_000143.2:n.858+24_858+25insCGGGCGG
NM_001079803.2:c.858+24_858+25insCGGGCGG	NP_001073271.1:n.858+24_858+25insCGGGCGG
NM_001079804.2:c.858+24_858+25insCGGGCGG	NP_001073272.1:n.858+24_858+25insCGGGCGG
XM_005257193.2:c.858+24_858+25insCGGGCGG	XP_005257250.1:n.858+24_858+25insCGGGCGG
XM_005257194.4:c.858+24_858+25insCGGGCGG	XP_005257251.1:n.858+24_858+25insCGGGCGG
NM_000152.5:c.858+24_858+25insCGGGCGG MANE Select	NP_000143.2:n.858+24_858+25insCGGGCGG
NM_001079803.3:c.858+24_858+25insCGGGCGG	NP_001073271.1:n.858+24_858+25insCGGGCGG
NM_001079804.3:c.858+24_858+25insCGGGCGG	NP_001073272.1:n.858+24_858+25insCGGGCGG