Canonical Allele Identifier: CA2640290551

Gene: GAA

Linked Data

• ClinVar Variation Id: 2701082
• ClinVar RCV Id: RCV003503481
• gnomAD v4: 17-80118625-CCTTTTCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118628_80118635del , CM000679.2:g.80118628_80118635del	GRCh38
NC_000017.10:g.78092427_78092434del , CM000679.1:g.78092427_78092434del	GRCh37
NC_000017.9:g.75707022_75707029del	NCBI36
NG_009822.1:g.22073_22080del , LRG_673:g.22073_22080del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.2647-25_2647-18del	ENSP00000460543.2:n.2647-25_2647-18del
ENST00000572080.2:c.*785-25_*785-18del	ENSP00000459972.2:n.*785-25_*785-18del
ENST00000577106.6:c.2647-25_2647-18del	ENSP00000458306.2:n.2647-25_2647-18del
ENST00000302262.8:c.2647-25_2647-18del MANE Select	ENSP00000305692.3:n.2647-25_2647-18del
ENST00000302262.7:c.2647-25_2647-18del	ENSP00000305692.3:n.2647-25_2647-18del
ENST00000390015.7:c.2647-25_2647-18del	ENSP00000374665.3:n.2647-25_2647-18del
ENST00000573556.1:n.600-25_600-18del
NM_000152.3:c.2647-25_2647-18del , LRG_673t1:c.2647-25_2647-18del	NP_000143.2:n.2647-25_2647-18del
NM_001079803.1:c.2647-25_2647-18del	NP_001073271.1:n.2647-25_2647-18del
NM_001079804.1:c.2647-25_2647-18del	NP_001073272.1:n.2647-25_2647-18del
XM_005257193.1:c.2647-25_2647-18del	XP_005257250.1:n.2647-25_2647-18del
XM_005257194.3:c.2647-25_2647-18del	XP_005257251.1:n.2647-25_2647-18del
NM_000152.4:c.2647-25_2647-18del	NP_000143.2:n.2647-25_2647-18del
NM_001079803.2:c.2647-25_2647-18del	NP_001073271.1:n.2647-25_2647-18del
NM_001079804.2:c.2647-25_2647-18del	NP_001073272.1:n.2647-25_2647-18del
XM_005257193.2:c.2647-25_2647-18del	XP_005257250.1:n.2647-25_2647-18del
XM_005257194.4:c.2647-25_2647-18del	XP_005257251.1:n.2647-25_2647-18del
NM_000152.5:c.2647-25_2647-18del MANE Select	NP_000143.2:n.2647-25_2647-18del
NM_001079803.3:c.2647-25_2647-18del	NP_001073271.1:n.2647-25_2647-18del
NM_001079804.3:c.2647-25_2647-18del	NP_001073272.1:n.2647-25_2647-18del