Canonical Allele Identifier: CA810003534

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1459621132
• MyVariant Identifiers: chr5:g.33984331_33984332del (hg19) ; chr5:g.33984226_33984227del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984227_33984228del , CM000667.2:g.33984227_33984228del	GRCh38
NC_000005.9:g.33984332_33984333del , CM000667.1:g.33984332_33984333del	GRCh37
NC_000005.8:g.34020089_34020090del	NCBI36
NG_011691.2:g.5449_5450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.357_358del MANE Select	ENSP00000296589.4:p.Tyr120ProfsTer13
ENST00000296589.8:c.357_358del	ENSP00000296589.4:p.Tyr120ProfsTer13
ENST00000382102.7:c.357_358del	ENSP00000371534.3:p.Tyr120ProfsTer13
ENST00000505056.1:n.336_337del
ENST00000509381.1:c.357_358del	ENSP00000421100.1:p.Tyr120ProfsTer13
ENST00000510600.1:c.9_10del	ENSP00000424010.1:p.Tyr4ProfsTer?
NM_001012509.3:c.357_358del	NP_001012527.1:p.Tyr120ProfsTer13
NM_001297417.2:c.357_358del	NP_001284346.2:p.Tyr120ProfsTer13
NM_016180.4:c.357_358del	NP_057264.3:p.Tyr120ProfsTer13
XM_011514052.1:c.357_358del	XP_011512354.1:p.Tyr120ProfsTer13
XR_925620.1:n.918_919del
NM_016180.5:c.357_358del MANE Select	NP_057264.4:p.Tyr120ProfsTer13
NM_001012509.4:c.357_358del	NP_001012527.2:p.Tyr120ProfsTer13
NM_001297417.3:c.357_358del	NP_001284346.2:p.Tyr120ProfsTer13
NM_001297417.4:c.357_358del	NP_001284346.2:p.Tyr120ProfsTer13