Canonical Allele Identifier: CA2695204191
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984422_33984423insCTGCCTCCACC , CM000667.2:g.33984422_33984423insCTGCCTCCACC GRCh38
NC_000005.9:g.33984527_33984528insCTGCCTCCACC , CM000667.1:g.33984527_33984528insCTGCCTCCACC GRCh37
NC_000005.8:g.34020284_34020285insCTGCCTCCACC NCBI36
NG_011691.2:g.5254_5255insGTGGAGGCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.162_163insGTGGAGGCAGG MANE Select ENSP00000296589.4:p.Tyr55ValfsTer6
ENST00000296589.8:c.162_163insGTGGAGGCAGG ENSP00000296589.4:p.Tyr55ValfsTer6
ENST00000382102.7:c.162_163insGTGGAGGCAGG ENSP00000371534.3:p.Tyr55ValfsTer6
ENST00000505056.1:n.141_142insGTGGAGGCAGG
ENST00000509381.1:c.162_163insGTGGAGGCAGG ENSP00000421100.1:p.Tyr55ValfsTer6
NM_001012509.3:c.162_163insGTGGAGGCAGG NP_001012527.1:p.Tyr55ValfsTer6
NM_001297417.2:c.162_163insGTGGAGGCAGG NP_001284346.2:p.Tyr55ValfsTer6
NM_016180.4:c.162_163insGTGGAGGCAGG NP_057264.3:p.Tyr55ValfsTer6
XM_011514052.1:c.162_163insGTGGAGGCAGG XP_011512354.1:p.Tyr55ValfsTer6
XR_925620.1:n.723_724insGTGGAGGCAGG
NM_016180.5:c.162_163insGTGGAGGCAGG MANE Select NP_057264.4:p.Tyr55ValfsTer6
NM_001012509.4:c.162_163insGTGGAGGCAGG NP_001012527.2:p.Tyr55ValfsTer6
NM_001297417.3:c.162_163insGTGGAGGCAGG NP_001284346.2:p.Tyr55ValfsTer6
NM_001297417.4:c.162_163insGTGGAGGCAGG NP_001284346.2:p.Tyr55ValfsTer6