Canonical Allele Identifier: CA351305
Gene: SLC45A2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.33984320del
GRCh37 chr5:g.33984425del
gnomAD v2:
5:33984424 CG / C
gnomAD v3:
5:33984319 CG / C
gnomAD v4:
chr5-33984319-CG-C
Joint Max Group AF 0.00025612 (NFE)
Genomes Max Group AF 0.00010174 (NFE)
Exomes Max Group AF 0.00026183 (NFE)
ClinVar RCV:
RCV000729765
RCV000779473
ClinVar Variation:
242518
dbSNP:
775387808
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984320del , CM000667.2:g.33984320del GRCh38
NC_000005.9:g.33984425del , CM000667.1:g.33984425del GRCh37
NC_000005.8:g.34020182del NCBI36
NG_011691.2:g.5356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.264del MANE Select ENSP00000296589.4:p.Gly89AspfsTer24
ENST00000296589.8:c.264del ENSP00000296589.4:p.Gly89AspfsTer24
ENST00000382102.7:c.264del ENSP00000371534.3:p.Gly89AspfsTer24
ENST00000505056.1:n.243del
ENST00000509381.1:c.264del ENSP00000421100.1:p.Gly89AspfsTer24
NM_001012509.3:c.264del NP_001012527.1:p.Gly89AspfsTer24
NM_001297417.2:c.264del NP_001284346.2:p.Gly89AspfsTer24
NM_016180.4:c.264del NP_057264.3:p.Gly89AspfsTer24
XM_011514052.1:c.264del XP_011512354.1:p.Gly89AspfsTer24
XR_925620.1:n.825del
NM_016180.5:c.264del MANE Select NP_057264.4:p.Gly89AspfsTer24
NM_001012509.4:c.264del NP_001012527.2:p.Gly89AspfsTer24
NM_001297417.3:c.264del NP_001284346.2:p.Gly89AspfsTer24
NM_001297417.4:c.264del NP_001284346.2:p.Gly89AspfsTer24
Search 100 bp 5'
Search 100 bp 3'