Canonical Allele Identifier: CA2673477220

Gene: SLC45A2

Linked Data

• dbSNP Id: rs2111960723
• gnomAD v4: 5-33963609-AAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963616_33963619del , CM000667.2:g.33963616_33963619del	GRCh38
NC_000005.9:g.33963721_33963724del , CM000667.1:g.33963721_33963724del	GRCh37
NC_000005.8:g.33999478_33999481del	NCBI36
NG_011691.2:g.26063_26066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.888+78_888+81del MANE Select	ENSP00000296589.4:n.888+78_888+81del
ENST00000296589.8:c.888+78_888+81del	ENSP00000296589.4:n.888+78_888+81del
ENST00000382102.7:c.888+78_888+81del	ENSP00000371534.3:n.888+78_888+81del
ENST00000509381.1:c.563-9109_563-9106del	ENSP00000421100.1:n.563-9109_563-9106del
ENST00000510600.1:c.363+78_363+81del	ENSP00000424010.1:n.363+78_363+81del
NM_001012509.3:c.888+78_888+81del	NP_001012527.1:n.888+78_888+81del
NM_001297417.2:c.563-9109_563-9106del	NP_001284346.2:n.563-9109_563-9106del
NM_016180.4:c.888+78_888+81del	NP_057264.3:n.888+78_888+81del
XM_011514051.1:c.486+78_486+81del	XP_011512353.1:n.486+78_486+81del
XM_011514052.1:c.888+78_888+81del	XP_011512354.1:n.888+78_888+81del
XR_925620.1:n.1705+78_1705+81del
NM_016180.5:c.888+78_888+81del MANE Select	NP_057264.4:n.888+78_888+81del
NM_001012509.4:c.888+78_888+81del	NP_001012527.2:n.888+78_888+81del
NM_001297417.3:c.563-9109_563-9106del	NP_001284346.2:n.563-9109_563-9106del
NM_001297417.4:c.563-9109_563-9106del	NP_001284346.2:n.563-9109_563-9106del