Canonical Allele Identifier: CA1515642015
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736864038

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437516_177437536del , CM000666.2:g.177437516_177437536del GRCh38
NC_000004.11:g.178358670_178358690del , CM000666.1:g.178358670_178358690del GRCh37
NC_000004.10:g.178595664_178595684del NCBI36
NG_011845.2:g.9971_9991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-14_514del
ENST00000264595.6:c.508-14_514del
ENST00000502310.5:c.163-14_169del
ENST00000506853.5:n.542-14_548del
ENST00000510635.1:c.204-14_210del
ENST00000510955.5:n.429-14_435del
NM_000027.3:c.508-14_514del
NM_001171988.1:c.508-14_514del
NR_033655.1:n.636-14_642del
XM_006714123.2:c.508-14_514del
XR_001741155.2:n.602-14_608del
NM_000027.4:c.508-14_514del
NM_001171988.2:c.508-14_514del
NR_033655.2:n.570-14_576del