Canonical Allele Identifier: CA1515646529
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736973388

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440680_177440681del , CM000666.2:g.177440680_177440681del GRCh38
NC_000004.11:g.178361834_178361835del , CM000666.1:g.178361834_178361835del GRCh37
NC_000004.10:g.178598828_178598829del NCBI36
NG_011845.2:g.6824_6825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-254_128-253del MANE Select ENSP00000264595.2:n.128-254_128-253del
ENST00000264595.6:c.128-254_128-253del ENSP00000264595.2:n.128-254_128-253del
ENST00000506853.5:n.162-254_162-253del
ENST00000510955.5:n.162-254_162-253del
ENST00000511231.1:n.162-254_162-253del
NM_000027.3:c.128-254_128-253del NP_000018.2:n.128-254_128-253del
NM_001171988.1:c.128-254_128-253del NP_001165459.1:n.128-254_128-253del
NR_033655.1:n.256-254_256-253del
XM_006714123.2:c.128-254_128-253del XP_006714186.1:n.128-254_128-253del
XR_001741155.2:n.222-254_222-253del
NM_000027.4:c.128-254_128-253del MANE Select NP_000018.2:n.128-254_128-253del
NM_001171988.2:c.128-254_128-253del NP_001165459.1:n.128-254_128-253del
NR_033655.2:n.190-254_190-253del