Canonical Allele Identifier: CA658795281

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117076_80117079delinsAAAGTA , CM000679.2:g.80117076_80117079delinsAAAGTA	GRCh38
NC_000017.10:g.78090875_78090878delinsAAAGTA , CM000679.1:g.78090875_78090878delinsAAAGTA	GRCh37
NC_000017.9:g.75705470_75705473delinsAAAGTA	NCBI36
NG_009822.1:g.20521_20524delinsAAAGTA , LRG_673:g.20521_20524delinsAAAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2298_2301delinsAAAGTA	ENSP00000460543.2:p.Tyr766Ter
ENST00000572080.2:c.*436_*439delinsAAAGTA	ENSP00000459972.2:n.*436_*439delinsAAAGTA
ENST00000577106.6:c.2298_2301delinsAAAGTA	ENSP00000458306.2:p.Tyr766Ter
ENST00000302262.8:c.2298_2301delinsAAAGTA MANE Select	ENSP00000305692.3:p.Tyr766Ter
ENST00000302262.7:c.2298_2301delinsAAAGTA	ENSP00000305692.3:p.Tyr766Ter
ENST00000390015.7:c.2298_2301delinsAAAGTA	ENSP00000374665.3:p.Tyr766Ter
ENST00000572080.1:c.717_720delinsAAAGTA
ENST00000573556.1:n.251_254delinsAAAGTA
NM_000152.3:c.2298_2301delinsAAAGTA , LRG_673t1:c.2298_2301delinsAAAGTA	NP_000143.2:p.Tyr766Ter
NM_001079803.1:c.2298_2301delinsAAAGTA	NP_001073271.1:p.Tyr766Ter
NM_001079804.1:c.2298_2301delinsAAAGTA	NP_001073272.1:p.Tyr766Ter
XM_005257193.1:c.2298_2301delinsAAAGTA	XP_005257250.1:p.Tyr766Ter
XM_005257194.3:c.2298_2301delinsAAAGTA	XP_005257251.1:p.Tyr766Ter
NM_000152.4:c.2298_2301delinsAAAGTA	NP_000143.2:p.Tyr766Ter
NM_001079803.2:c.2298_2301delinsAAAGTA	NP_001073271.1:p.Tyr766Ter
NM_001079804.2:c.2298_2301delinsAAAGTA	NP_001073272.1:p.Tyr766Ter
XM_005257193.2:c.2298_2301delinsAAAGTA	XP_005257250.1:p.Tyr766Ter
XM_005257194.4:c.2298_2301delinsAAAGTA	XP_005257251.1:p.Tyr766Ter
NM_000152.5:c.2298_2301delinsAAAGTA MANE Select	NP_000143.2:p.Tyr766Ter
NM_001079803.3:c.2298_2301delinsAAAGTA	NP_001073271.1:p.Tyr766Ter
NM_001079804.3:c.2298_2301delinsAAAGTA	NP_001073272.1:p.Tyr766Ter