Canonical Allele Identifier: CA1515644921
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736932624

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439662_177439663insTTTTGA , CM000666.2:g.177439662_177439663insTTTTGA GRCh38
NC_000004.11:g.178360816_178360817insTTTTGA , CM000666.1:g.178360816_178360817insTTTTGA GRCh37
NC_000004.10:g.178597810_178597811insTTTTGA NCBI36
NG_011845.2:g.7841_7842insTCAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.307_308insTCAAAA MANE Select ENSP00000264595.2:p.Gly103delinsValLysArg
ENST00000264595.6:c.307_308insTCAAAA ENSP00000264595.2:p.Gly103delinsValLysArg
ENST00000506853.5:n.341_342insTCAAAA
ENST00000510635.1:c.3_4insTCAAAA
ENST00000510955.5:n.315+610_315+611insTCAAAA
NM_000027.3:c.307_308insTCAAAA NP_000018.2:p.Gly103delinsValLysArg
NM_001171988.1:c.307_308insTCAAAA NP_001165459.1:p.Gly103delinsValLysArg
NR_033655.1:n.435_436insTCAAAA
XM_006714123.2:c.307_308insTCAAAA XP_006714186.1:p.Gly103delinsValLysArg
XR_001741155.2:n.401_402insTCAAAA
NM_000027.4:c.307_308insTCAAAA MANE Select NP_000018.2:p.Gly103delinsValLysArg
NM_001171988.2:c.307_308insTCAAAA NP_001165459.1:p.Gly103delinsValLysArg
NR_033655.2:n.369_370insTCAAAA