Canonical Allele Identifier: CA2695204190
Gene: SLC45A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984411_33984416del , CM000667.2:g.33984411_33984416del GRCh38
NC_000005.9:g.33984516_33984521del , CM000667.1:g.33984516_33984521del GRCh37
NC_000005.8:g.34020273_34020278del NCBI36
NG_011691.2:g.5260_5265del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.168_173del MANE Select ENSP00000296589.4:p.Thr57_Pro58del
ENST00000296589.8:c.168_173del ENSP00000296589.4:p.Thr57_Pro58del
ENST00000382102.7:c.168_173del ENSP00000371534.3:p.Thr57_Pro58del
ENST00000505056.1:n.147_152del
ENST00000509381.1:c.168_173del ENSP00000421100.1:p.Thr57_Pro58del
NM_001012509.3:c.168_173del NP_001012527.1:p.Thr57_Pro58del
NM_001297417.2:c.168_173del NP_001284346.2:p.Thr57_Pro58del
NM_016180.4:c.168_173del NP_057264.3:p.Thr57_Pro58del
XM_011514052.1:c.168_173del XP_011512354.1:p.Thr57_Pro58del
XR_925620.1:n.729_734del
NM_016180.5:c.168_173del MANE Select NP_057264.4:p.Thr57_Pro58del
NM_001012509.4:c.168_173del NP_001012527.2:p.Thr57_Pro58del
NM_001297417.3:c.168_173del NP_001284346.2:p.Thr57_Pro58del
NM_001297417.4:c.168_173del NP_001284346.2:p.Thr57_Pro58del