Canonical Allele Identifier: CA116890191

Gene: SLC45A2

Linked Data

• dbSNP Id: rs538931365
• MyVariant Identifiers: chr5:g.33963750del (hg19) ; chr5:g.33963645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963645del , CM000667.2:g.33963645del	GRCh38
NC_000005.9:g.33963750del , CM000667.1:g.33963750del	GRCh37
NC_000005.8:g.33999507del	NCBI36
NG_011691.2:g.26031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.888+46del MANE Select	ENSP00000296589.4:n.888+46del
ENST00000296589.8:c.888+46del	ENSP00000296589.4:n.888+46del
ENST00000382102.7:c.888+46del	ENSP00000371534.3:n.888+46del
ENST00000505056.1:n.736del
ENST00000509381.1:c.563-9141del	ENSP00000421100.1:n.563-9141del
ENST00000510600.1:c.363+46del	ENSP00000424010.1:n.363+46del
NM_001012509.3:c.888+46del	NP_001012527.1:n.888+46del
NM_001297417.2:c.563-9141del	NP_001284346.2:n.563-9141del
NM_016180.4:c.888+46del	NP_057264.3:n.888+46del
XM_011514051.1:c.486+46del	XP_011512353.1:n.486+46del
XM_011514052.1:c.888+46del	XP_011512354.1:n.888+46del
XR_925620.1:n.1705+46del
NM_016180.5:c.888+46del MANE Select	NP_057264.4:n.888+46del
NM_001012509.4:c.888+46del	NP_001012527.2:n.888+46del
NM_001297417.3:c.563-9141del	NP_001284346.2:n.563-9141del
NM_001297417.4:c.563-9141del	NP_001284346.2:n.563-9141del