Canonical Allele Identifier: CA1538218509

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1753172479
• gnomAD v4: 5-33984309-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984310_33984311del , CM000667.2:g.33984310_33984311del	GRCh38
NC_000005.9:g.33984415_33984416del , CM000667.1:g.33984415_33984416del	GRCh37
NC_000005.8:g.34020172_34020173del	NCBI36
NG_011691.2:g.5365_5366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.273_274del MANE Select	ENSP00000296589.4:p.Ser92ArgfsTer?
ENST00000296589.8:c.273_274del	ENSP00000296589.4:p.Ser92ArgfsTer?
ENST00000382102.7:c.273_274del	ENSP00000371534.3:p.Ser92ArgfsTer?
ENST00000505056.1:n.252_253del
ENST00000509381.1:c.273_274del	ENSP00000421100.1:p.Ser92ArgfsTer?
NM_001012509.3:c.273_274del	NP_001012527.1:p.Ser92ArgfsTer?
NM_001297417.2:c.273_274del	NP_001284346.2:p.Ser92ArgfsTer?
NM_016180.4:c.273_274del	NP_057264.3:p.Ser92ArgfsTer?
XM_011514052.1:c.273_274del	XP_011512354.1:p.Ser92ArgfsTer?
XR_925620.1:n.834_835del
NM_016180.5:c.273_274del MANE Select	NP_057264.4:p.Ser92ArgfsTer?
NM_001012509.4:c.273_274del	NP_001012527.2:p.Ser92ArgfsTer?
NM_001297417.3:c.273_274del	NP_001284346.2:p.Ser92ArgfsTer?
NM_001297417.4:c.273_274del	NP_001284346.2:p.Ser92ArgfsTer?