Canonical Allele Identifier: CA3147049
Gene: AGA HGNC NCBI
gnomAD v2:
4:178363422 AAAGGGCC / A
gnomAD v3:
4:177442268 AAAGGGCC / A
gnomAD v4:
chr4-177442268-AAAGGGCC-A
Joint Max Group AF 0.00001454 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001377 (NFE)
ClinVar RCV:
RCV000587664
RCV001574484
ClinVar Variation:
495346
dbSNP:
759063638
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442272_177442278del , CM000666.2:g.177442272_177442278del GRCh38
NC_000004.11:g.178363426_178363432del , CM000666.1:g.178363426_178363432del GRCh37
NC_000004.10:g.178600420_178600426del NCBI36
NG_011845.2:g.5229_5235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.101_107del MANE Select ENSP00000264595.2:p.Trp34LeufsTer12
ENST00000264595.6:c.101_107del ENSP00000264595.2:p.Trp34LeufsTer12
ENST00000506853.5:n.135_141del
ENST00000510955.5:n.135_141del
ENST00000511231.1:n.135_141del
NM_000027.3:c.101_107del NP_000018.2:p.Trp34LeufsTer12
NM_001171988.1:c.101_107del NP_001165459.1:p.Trp34LeufsTer12
NR_033655.1:n.229_235del
XM_006714123.2:c.101_107del XP_006714186.1:p.Trp34LeufsTer12
XR_001741155.2:n.195_201del
NM_000027.4:c.101_107del MANE Select NP_000018.2:p.Trp34LeufsTer12
NM_001171988.2:c.101_107del NP_001165459.1:p.Trp34LeufsTer12
NR_033655.2:n.163_169del
Search 100 bp 5'
Search 100 bp 3'