Canonical Allele Identifier: CA2734103515

Gene: GAA

Linked Data

• dbSNP Id: rs2143931081

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118361_80118362insATGAGCTGGTACGTGTGACCAGTGAGGGA , CM000679.2:g.80118361_80118362insATGAGCTGGTACGTGTGACCAGTGAGGGA	GRCh38
NC_000017.10:g.78092160_78092161insATGAGCTGGTACGTGTGACCAGTGAGGGA , CM000679.1:g.78092160_78092161insATGAGCTGGTACGTGTGACCAGTGAGGGA	GRCh37
NC_000017.9:g.75706755_75706756insATGAGCTGGTACGTGTGACCAGTGAGGGA	NCBI36
NG_009822.1:g.21806_21807insATGAGCTGGTACGTGTGACCAGTGAGGGA , LRG_673:g.21806_21807insATGAGCTGGTACGTGTGACCAGTGAGGGA

Transcript Alleles

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