Canonical Allele Identifier: CA2576414224

Gene: GAA

Linked Data

• gnomAD v4: 17-80113442-CTGCTGTGGGCTGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113444_80113457del , CM000679.2:g.80113444_80113457del	GRCh38
NC_000017.10:g.78087243_78087256del , CM000679.1:g.78087243_78087256del	GRCh37
NC_000017.9:g.75701838_75701851del	NCBI36
NG_009822.1:g.16889_16902del , LRG_673:g.16889_16902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2189+78_2189+91del	ENSP00000460543.2:n.2189+78_2189+91del
ENST00000572080.2:c.*327+78_*327+91del	ENSP00000459972.2:n.*327+78_*327+91del
ENST00000577106.6:c.2189+78_2189+91del	ENSP00000458306.2:n.2189+78_2189+91del
ENST00000302262.8:c.2189+78_2189+91del MANE Select	ENSP00000305692.3:n.2189+78_2189+91del
ENST00000302262.7:c.2189+78_2189+91del	ENSP00000305692.3:n.2189+78_2189+91del
ENST00000390015.7:c.2189+78_2189+91del	ENSP00000374665.3:n.2189+78_2189+91del
ENST00000572080.1:c.608+78_608+91del
NM_000152.3:c.2189+78_2189+91del , LRG_673t1:c.2189+78_2189+91del	NP_000143.2:n.2189+78_2189+91del
NM_001079803.1:c.2189+78_2189+91del	NP_001073271.1:n.2189+78_2189+91del
NM_001079804.1:c.2189+78_2189+91del	NP_001073272.1:n.2189+78_2189+91del
XM_005257193.1:c.2189+78_2189+91del	XP_005257250.1:n.2189+78_2189+91del
XM_005257194.3:c.2189+78_2189+91del	XP_005257251.1:n.2189+78_2189+91del
NM_000152.4:c.2189+78_2189+91del	NP_000143.2:n.2189+78_2189+91del
NM_001079803.2:c.2189+78_2189+91del	NP_001073271.1:n.2189+78_2189+91del
NM_001079804.2:c.2189+78_2189+91del	NP_001073272.1:n.2189+78_2189+91del
XM_005257193.2:c.2189+78_2189+91del	XP_005257250.1:n.2189+78_2189+91del
XM_005257194.4:c.2189+78_2189+91del	XP_005257251.1:n.2189+78_2189+91del
NM_000152.5:c.2189+78_2189+91del MANE Select	NP_000143.2:n.2189+78_2189+91del
NM_001079803.3:c.2189+78_2189+91del	NP_001073271.1:n.2189+78_2189+91del
NM_001079804.3:c.2189+78_2189+91del	NP_001073272.1:n.2189+78_2189+91del