Canonical Allele Identifier: CA2640290036

Gene: GAA

Linked Data

• gnomAD v4: 17-80118496-G-GCACGGCCCCACTGCTCACTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118496_80118497insCACGGCCCCACTGCTCACTCT , CM000679.2:g.80118496_80118497insCACGGCCCCACTGCTCACTCT	GRCh38
NC_000017.10:g.78092295_78092296insCACGGCCCCACTGCTCACTCT , CM000679.1:g.78092295_78092296insCACGGCCCCACTGCTCACTCT	GRCh37
NC_000017.9:g.75706890_75706891insCACGGCCCCACTGCTCACTCT	NCBI36
NG_009822.1:g.21941_21942insCACGGCCCCACTGCTCACTCT , LRG_673:g.21941_21942insCACGGCCCCACTGCTCACTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	ENSP00000460543.2:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT...
ENST00000572080.2:c.*784+139_*784+140insCACGGCCCCACTGCTCACTCT	ENSP00000459972.2:n.*784+139_*784+140insCACGGCCCCACTGCTCACTCT...
ENST00000577106.6:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	ENSP00000458306.2:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT...
ENST00000302262.8:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT MANE Select	ENSP00000305692.3:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT...
ENST00000302262.7:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	ENSP00000305692.3:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT...
ENST00000390015.7:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	ENSP00000374665.3:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT...
ENST00000573556.1:n.599+139_599+140insCACGGCCCCACTGCTCACTCT
NM_000152.3:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT , LRG_673t1:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	NP_000143.2:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
NM_001079803.1:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	NP_001073271.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
NM_001079804.1:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	NP_001073272.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
XM_005257193.1:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	XP_005257250.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
XM_005257194.3:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	XP_005257251.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
NM_000152.4:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	NP_000143.2:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
NM_001079803.2:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	NP_001073271.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
NM_001079804.2:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	NP_001073272.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
XM_005257193.2:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	XP_005257250.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
XM_005257194.4:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	XP_005257251.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
NM_000152.5:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT MANE Select	NP_000143.2:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
NM_001079803.3:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	NP_001073271.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT
NM_001079804.3:c.2646+139_2646+140insCACGGCCCCACTGCTCACTCT	NP_001073272.1:n.2646+139_2646+140insCACGGCCCCACTGCTCACTCT