Canonical Allele Identifier: CA253183

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 4506
• ClinVar RCV Id: RCV002512771
• dbSNP Id: rs730880271
• gnomAD v4: 5-33951588-CA-C
• MyVariant Identifiers: chr5:g.33951694del (hg19) ; chr5:g.33951589del (hg38)
• PubMed: PMID:14070830 ; PMID:16868655

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951590del , CM000667.2:g.33951590del	GRCh38
NC_000005.9:g.33951695del , CM000667.1:g.33951695del	GRCh37
NC_000005.8:g.33987452del	NCBI36
NG_011691.2:g.38087del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.1121del MANE Select	ENSP00000296589.4:p.Leu374CysfsTer24
ENST00000296589.8:c.1121del	ENSP00000296589.4:p.Leu374CysfsTer24
ENST00000382102.7:c.1121del	ENSP00000371534.3:p.Leu374CysfsTer24
ENST00000509381.1:c.*63del	ENSP00000421100.1:n.*63del
ENST00000510600.1:c.596del	ENSP00000424010.1:p.Leu199CysfsTer24
NM_001012509.3:c.1121del	NP_001012527.1:p.Phe374SerfsTer24
NM_001297417.2:c.*63del	NP_001284346.2:n.*63del
NM_016180.4:c.1121del	NP_057264.3:p.Phe374SerfsTer24
XM_011514051.1:c.719del	XP_011512353.1:p.Leu240CysfsTer24
XR_925620.1:n.1938del
NM_016180.5:c.1121del MANE Select	NP_057264.4:p.Leu374CysfsTer24
NM_001012509.4:c.1121del	NP_001012527.2:p.Leu374CysfsTer24
NM_001297417.3:c.*63del	NP_001284346.2:n.*63del
NM_001297417.4:c.*63del	NP_001284346.2:n.*63del