Canonical Allele Identifier: CA1515649344
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442305_177442306delinsGA , CM000666.2:g.177442305_177442306delinsGA GRCh38
NC_000004.11:g.178363459_178363460delinsGA , CM000666.1:g.178363459_178363460delinsGA GRCh37
NC_000004.10:g.178600453_178600454delinsGA NCBI36
NG_011845.2:g.5198_5199delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.70_71delinsTC MANE Select ENSP00000264595.2:p.Ser24=
ENST00000264595.6:c.70_71delinsTC ENSP00000264595.2:p.Ser24=
ENST00000506853.5:n.104_105delinsTC
ENST00000510955.5:n.104_105delinsTC
ENST00000511231.1:n.104_105delinsTC
NM_000027.3:c.70_71delinsTC NP_000018.2:p.Ser24=
NM_001171988.1:c.70_71delinsTC NP_001165459.1:p.Ser24=
NR_033655.1:n.198_199delinsTC
XM_006714123.2:c.70_71delinsTC XP_006714186.1:p.Ser24=
XR_001741155.2:n.164_165delinsTC
NM_000027.4:c.70_71delinsTC MANE Select NP_000018.2:p.Ser24=
NM_001171988.2:c.70_71delinsTC NP_001165459.1:p.Ser24=
NR_033655.2:n.132_133delinsTC