Canonical Allele Identifier: CA2734103413
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2143931052
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118357_80118358insAACACGATC , CM000679.2:g.80118357_80118358insAACACGATC GRCh38
NC_000017.10:g.78092156_78092157insAACACGATC , CM000679.1:g.78092156_78092157insAACACGATC GRCh37
NC_000017.9:g.75706751_75706752insAACACGATC NCBI36
NG_009822.1:g.21802_21803insAACACGATC , LRG_673:g.21802_21803insAACACGATC

Transcript Alleles

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