Canonical Allele Identifier: CA16040934
Gene: AGA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371375
ClinVar RCV Id: RCV000410049
dbSNP Id: rs1057517223

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439637del , CM000666.2:g.177439637del GRCh38
NC_000004.11:g.178360791del , CM000666.1:g.178360791del GRCh37
NC_000004.10:g.178597785del NCBI36
NG_011845.2:g.7867del

Transcript Alleles

HGVS Amino-acid change
NM_000027.3:c.333del VV NP_000018.2:p.Ile112LeufsTer16
NM_001171988.1:c.333del VV NP_001165459.1:p.Ile112LeufsTer16
NR_033655.1:n.461del
XM_006714123.2:c.333del XP_006714186.1:p.Ile112LeufsTer16
XR_001741155.2:n.427del
NM_000027.4:c.333del VV MANE Preferred
ENST00000264595.6:c.333del ENSP00000264595.2:p.Ile112LeufsTer16
ENST00000506853.5:n.367del
ENST00000510635.1:n.29del
ENST00000510955.5:n.315+636del