Canonical Allele Identifier: CA2640287613

Gene: GAA

Linked Data

• gnomAD v4: 17-80117693-GCCCCCCTGGACACCATCAACGTCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117696_80117720del , CM000679.2:g.80117696_80117720del	GRCh38
NC_000017.10:g.78091495_78091519del , CM000679.1:g.78091495_78091519del	GRCh37
NC_000017.9:g.75706090_75706114del	NCBI36
NG_009822.1:g.21141_21165del , LRG_673:g.21141_21165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2428_2452del	ENSP00000460543.2:p.Pro810SerfsTer30
ENST00000572080.2:c.*566_*590del	ENSP00000459972.2:n.*566_*590del
ENST00000577106.6:c.2428_2452del	ENSP00000458306.2:p.Pro810SerfsTer30
ENST00000302262.8:c.2428_2452del MANE Select	ENSP00000305692.3:p.Pro810SerfsTer30
ENST00000302262.7:c.2428_2452del	ENSP00000305692.3:p.Pro810SerfsTer30
ENST00000390015.7:c.2428_2452del	ENSP00000374665.3:p.Pro810SerfsTer30
ENST00000573556.1:n.381_405del
NM_000152.3:c.2428_2452del , LRG_673t1:c.2428_2452del	NP_000143.2:p.Pro810SerfsTer30
NM_001079803.1:c.2428_2452del	NP_001073271.1:p.Pro810SerfsTer30
NM_001079804.1:c.2428_2452del	NP_001073272.1:p.Pro810SerfsTer30
XM_005257193.1:c.2428_2452del	XP_005257250.1:p.Pro810SerfsTer30
XM_005257194.3:c.2428_2452del	XP_005257251.1:p.Pro810SerfsTer30
NM_000152.4:c.2428_2452del	NP_000143.2:p.Pro810SerfsTer30
NM_001079803.2:c.2428_2452del	NP_001073271.1:p.Pro810SerfsTer30
NM_001079804.2:c.2428_2452del	NP_001073272.1:p.Pro810SerfsTer30
XM_005257193.2:c.2428_2452del	XP_005257250.1:p.Pro810SerfsTer30
XM_005257194.4:c.2428_2452del	XP_005257251.1:p.Pro810SerfsTer30
NM_000152.5:c.2428_2452del MANE Select	NP_000143.2:p.Pro810SerfsTer30
NM_001079803.3:c.2428_2452del	NP_001073271.1:p.Pro810SerfsTer30
NM_001079804.3:c.2428_2452del	NP_001073272.1:p.Pro810SerfsTer30