Canonical Allele Identifier: CA986720612

Gene: GAA

Linked Data

• dbSNP Id: rs2039023667
• gnomAD v3: 17-80104574-GCCATCTCCAACCATGGGAGTGAGGCA-G
• gnomAD v4: 17-80104574-GCCATCTCCAACCATGGGAGTGAGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104577_80104602del , CM000679.2:g.80104577_80104602del	GRCh38
NC_000017.10:g.78078376_78078401del , CM000679.1:g.78078376_78078401del	GRCh37
NC_000017.9:g.75692971_75692996del	NCBI36
NG_009822.1:g.8022_8047del , LRG_673:g.8022_8047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-10_16del
ENST00000572080.2:c.-10_16del
ENST00000577106.6:c.-10_16del
ENST00000302262.8:c.-10_16del
ENST00000302262.7:c.-10_16del
ENST00000390015.7:c.-10_16del
ENST00000570803.5:c.-10_16del
ENST00000577106.5:c.-10_16del
NM_000152.3:c.-10_16del , LRG_673t1:c.-10_16del
NM_001079803.1:c.-10_16del
NM_001079804.1:c.-10_16del
XM_005257193.1:c.-10_16del
XM_005257194.3:c.-10_16del
NM_000152.4:c.-10_16del
NM_001079803.2:c.-10_16del
NM_001079804.2:c.-10_16del
XM_005257193.2:c.-10_16del
XM_005257194.4:c.-10_16del
NM_000152.5:c.-10_16del
NM_001079803.3:c.-10_16del
NM_001079804.3:c.-10_16del