Canonical Allele Identifier: CA2695204194
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984454dup , CM000667.2:g.33984454dup GRCh38
NC_000005.9:g.33984559dup , CM000667.1:g.33984559dup GRCh37
NC_000005.8:g.34020316dup NCBI36
NG_011691.2:g.5223dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.131dup MANE Select ENSP00000296589.4:p.Arg45LysfsTer?
ENST00000296589.8:c.131dup ENSP00000296589.4:p.Arg45LysfsTer?
ENST00000382102.7:c.131dup ENSP00000371534.3:p.Arg45LysfsTer?
ENST00000505056.1:n.110dup
ENST00000509381.1:c.131dup ENSP00000421100.1:p.Arg45LysfsTer?
NM_001012509.3:c.131dup NP_001012527.1:p.Arg45LysfsTer?
NM_001297417.2:c.131dup NP_001284346.2:p.Arg45LysfsTer?
NM_016180.4:c.131dup NP_057264.3:p.Arg45LysfsTer?
XM_011514052.1:c.131dup XP_011512354.1:p.Arg45LysfsTer?
XR_925620.1:n.692dup
NM_016180.5:c.131dup MANE Select NP_057264.4:p.Arg45LysfsTer?
NM_001012509.4:c.131dup NP_001012527.2:p.Arg45LysfsTer?
NM_001297417.3:c.131dup NP_001284346.2:p.Arg45LysfsTer?
NM_001297417.4:c.131dup NP_001284346.2:p.Arg45LysfsTer?