Canonical Allele Identifier: CA2697547109

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2742936
• ClinVar RCV Id: RCV003558163

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984421_33984425del , CM000667.2:g.33984421_33984425del	GRCh38
NC_000005.9:g.33984526_33984530del , CM000667.1:g.33984526_33984530del	GRCh37
NC_000005.8:g.34020283_34020287del	NCBI36
NG_011691.2:g.5252_5256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.160_164del MANE Select	ENSP00000296589.4:p.Ala54CysfsTer?
ENST00000296589.8:c.160_164del	ENSP00000296589.4:p.Ala54CysfsTer?
ENST00000382102.7:c.160_164del	ENSP00000371534.3:p.Ala54CysfsTer?
ENST00000505056.1:n.139_143del
ENST00000509381.1:c.160_164del	ENSP00000421100.1:p.Ala54CysfsTer?
NM_001012509.3:c.160_164del	NP_001012527.1:p.Ala54CysfsTer?
NM_001297417.2:c.160_164del	NP_001284346.2:p.Ala54CysfsTer?
NM_016180.4:c.160_164del	NP_057264.3:p.Ala54CysfsTer?
XM_011514052.1:c.160_164del	XP_011512354.1:p.Ala54CysfsTer?
XR_925620.1:n.721_725del
NM_016180.5:c.160_164del MANE Select	NP_057264.4:p.Ala54CysfsTer?
NM_001012509.4:c.160_164del	NP_001012527.2:p.Ala54CysfsTer?
NM_001297417.3:c.160_164del	NP_001284346.2:p.Ala54CysfsTer?
NM_001297417.4:c.160_164del	NP_001284346.2:p.Ala54CysfsTer?