Canonical Allele Identifier: CA1515645937
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440352_177440356delinsGCTCT , CM000666.2:g.177440352_177440356delinsGCTCT GRCh38
NC_000004.11:g.178361506_178361510delinsGCTCT , CM000666.1:g.178361506_178361510delinsGCTCT GRCh37
NC_000004.10:g.178598500_178598504delinsGCTCT NCBI36
NG_011845.2:g.7148_7152delinsAGAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.198_202delinsAGAGC MANE Select ENSP00000264595.2:p.Arg66=
ENST00000264595.6:c.198_202delinsAGAGC ENSP00000264595.2:p.Arg66=
ENST00000506853.5:n.232_236delinsAGAGC
ENST00000510955.5:n.232_236delinsAGAGC
ENST00000511231.1:n.232_236delinsAGAGC
NM_000027.3:c.198_202delinsAGAGC NP_000018.2:p.Arg66=
NM_001171988.1:c.198_202delinsAGAGC NP_001165459.1:p.Arg66=
NR_033655.1:n.326_330delinsAGAGC
XM_006714123.2:c.198_202delinsAGAGC XP_006714186.1:p.Arg66=
XR_001741155.2:n.292_296delinsAGAGC
NM_000027.4:c.198_202delinsAGAGC MANE Select NP_000018.2:p.Arg66=
NM_001171988.2:c.198_202delinsAGAGC NP_001165459.1:p.Arg66=
NR_033655.2:n.260_264delinsAGAGC