Canonical Allele Identifier: CA8815344

Gene: GAA

Linked Data

• ClinVar Variation Id: 290436
• ClinVar RCV Id: RCV000726484 ; RCV002522027
• dbSNP Id: rs764583466
• ExAC: 17:78084516 CGTT / C
• gnomAD v2: 17-78084516-CGTT-C
• gnomAD v3: 17-80110717-CGTT-C
• gnomAD v4: 17-80110717-CGTT-C
• MyVariant Identifiers: chr17:g.78084519_78084521del (hg19) ; chr17:g.78084517_78084519del (hg19) ; chr17:g.80110720_80110722del (hg38) ; chr17:g.80110718_80110720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80110720_80110722del , CM000679.2:g.80110720_80110722del	GRCh38
NC_000017.10:g.78084519_78084521del , CM000679.1:g.78084519_78084521del	GRCh37
NC_000017.9:g.75699114_75699116del	NCBI36
NG_009822.1:g.14165_14167del , LRG_673:g.14165_14167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1438-7_1438-5del	ENSP00000460543.2:n.1438-7_1438-5del
ENST00000572080.2:c.1438-7_1438-5del	ENSP00000459972.2:n.1438-7_1438-5del
ENST00000577106.6:c.1438-7_1438-5del	ENSP00000458306.2:n.1438-7_1438-5del
ENST00000302262.8:c.1438-7_1438-5del MANE Select	ENSP00000305692.3:n.1438-7_1438-5del
ENST00000302262.7:c.1438-7_1438-5del	ENSP00000305692.3:n.1438-7_1438-5del
ENST00000390015.7:c.1438-7_1438-5del	ENSP00000374665.3:n.1438-7_1438-5del
NM_000152.3:c.1438-7_1438-5del , LRG_673t1:c.1438-7_1438-5del	NP_000143.2:n.1438-7_1438-5del
NM_001079803.1:c.1438-7_1438-5del	NP_001073271.1:n.1438-7_1438-5del
NM_001079804.1:c.1438-7_1438-5del	NP_001073272.1:n.1438-7_1438-5del
XM_005257193.1:c.1438-7_1438-5del	XP_005257250.1:n.1438-7_1438-5del
XM_005257194.3:c.1438-7_1438-5del	XP_005257251.1:n.1438-7_1438-5del
NM_000152.4:c.1438-7_1438-5del	NP_000143.2:n.1438-7_1438-5del
NM_001079803.2:c.1438-7_1438-5del	NP_001073271.1:n.1438-7_1438-5del
NM_001079804.2:c.1438-7_1438-5del	NP_001073272.1:n.1438-7_1438-5del
XM_005257193.2:c.1438-7_1438-5del	XP_005257250.1:n.1438-7_1438-5del
XM_005257194.4:c.1438-7_1438-5del	XP_005257251.1:n.1438-7_1438-5del
NM_000152.5:c.1438-7_1438-5del MANE Select	NP_000143.2:n.1438-7_1438-5del
NM_001079803.3:c.1438-7_1438-5del	NP_001073271.1:n.1438-7_1438-5del
NM_001079804.3:c.1438-7_1438-5del	NP_001073272.1:n.1438-7_1438-5del