Canonical Allele Identifier: CA2640288113

Gene: GAA

Linked Data

• gnomAD v4: 17-80117831-A-AAGCCCCACCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117831_80117832insAGCCCCACCTG , CM000679.2:g.80117831_80117832insAGCCCCACCTG	GRCh38
NC_000017.10:g.78091630_78091631insAGCCCCACCTG , CM000679.1:g.78091630_78091631insAGCCCCACCTG	GRCh37
NC_000017.9:g.75706225_75706226insAGCCCCACCTG	NCBI36
NG_009822.1:g.21276_21277insAGCCCCACCTG , LRG_673:g.21276_21277insAGCCCCACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2481+82_2481+83insAGCCCCACCTG	ENSP00000460543.2:n.2481+82_2481+83insAGCCCCACCTG
ENST00000572080.2:c.*619+82_*619+83insAGCCCCACCTG	ENSP00000459972.2:n.*619+82_*619+83insAGCCCCACCTG
ENST00000577106.6:c.2481+82_2481+83insAGCCCCACCTG	ENSP00000458306.2:n.2481+82_2481+83insAGCCCCACCTG
ENST00000302262.8:c.2481+82_2481+83insAGCCCCACCTG MANE Select	ENSP00000305692.3:n.2481+82_2481+83insAGCCCCACCTG
ENST00000302262.7:c.2481+82_2481+83insAGCCCCACCTG	ENSP00000305692.3:n.2481+82_2481+83insAGCCCCACCTG
ENST00000390015.7:c.2481+82_2481+83insAGCCCCACCTG	ENSP00000374665.3:n.2481+82_2481+83insAGCCCCACCTG
ENST00000573556.1:n.434+82_434+83insAGCCCCACCTG
NM_000152.3:c.2481+82_2481+83insAGCCCCACCTG , LRG_673t1:c.2481+82_2481+83insAGCCCCACCTG	NP_000143.2:n.2481+82_2481+83insAGCCCCACCTG
NM_001079803.1:c.2481+82_2481+83insAGCCCCACCTG	NP_001073271.1:n.2481+82_2481+83insAGCCCCACCTG
NM_001079804.1:c.2481+82_2481+83insAGCCCCACCTG	NP_001073272.1:n.2481+82_2481+83insAGCCCCACCTG
XM_005257193.1:c.2481+82_2481+83insAGCCCCACCTG	XP_005257250.1:n.2481+82_2481+83insAGCCCCACCTG
XM_005257194.3:c.2481+82_2481+83insAGCCCCACCTG	XP_005257251.1:n.2481+82_2481+83insAGCCCCACCTG
NM_000152.4:c.2481+82_2481+83insAGCCCCACCTG	NP_000143.2:n.2481+82_2481+83insAGCCCCACCTG
NM_001079803.2:c.2481+82_2481+83insAGCCCCACCTG	NP_001073271.1:n.2481+82_2481+83insAGCCCCACCTG
NM_001079804.2:c.2481+82_2481+83insAGCCCCACCTG	NP_001073272.1:n.2481+82_2481+83insAGCCCCACCTG
XM_005257193.2:c.2481+82_2481+83insAGCCCCACCTG	XP_005257250.1:n.2481+82_2481+83insAGCCCCACCTG
XM_005257194.4:c.2481+82_2481+83insAGCCCCACCTG	XP_005257251.1:n.2481+82_2481+83insAGCCCCACCTG
NM_000152.5:c.2481+82_2481+83insAGCCCCACCTG MANE Select	NP_000143.2:n.2481+82_2481+83insAGCCCCACCTG
NM_001079803.3:c.2481+82_2481+83insAGCCCCACCTG	NP_001073271.1:n.2481+82_2481+83insAGCCCCACCTG
NM_001079804.3:c.2481+82_2481+83insAGCCCCACCTG	NP_001073272.1:n.2481+82_2481+83insAGCCCCACCTG