Canonical Allele Identifier: CA913184754

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108679_80116948del , CM000679.2:g.80108679_80116948del	GRCh38
NC_000017.10:g.78082478_78090747del , CM000679.1:g.78082478_78090747del	GRCh37
NC_000017.9:g.75697073_75705342del	NCBI36
NG_009822.1:g.12124_20393del , LRG_673:g.12124_20393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1195-18_2190-20del
ENST00000572080.2:c.1195-18_*328-20del
ENST00000577106.6:c.1195-18_2190-20del
ENST00000302262.8:c.1195-18_2190-20del
ENST00000302262.7:c.1195-18_2190-20del
ENST00000390015.7:c.1195-18_2190-20del
NM_000152.3:c.1195-18_2190-20del , LRG_673t1:c.1195-18_2190-20del
NM_001079803.1:c.1195-18_2190-20del
NM_001079804.1:c.1195-18_2190-20del
XM_005257193.1:c.1195-18_2190-20del
XM_005257194.3:c.1195-18_2190-20del
NM_000152.4:c.1195-18_2190-20del
NM_001079803.2:c.1195-18_2190-20del
NM_001079804.2:c.1195-18_2190-20del
XM_005257193.2:c.1195-18_2190-20del
XM_005257194.4:c.1195-18_2190-20del
NM_000152.5:c.1195-18_2190-20del
NM_001079803.3:c.1195-18_2190-20del
NM_001079804.3:c.1195-18_2190-20del