Canonical Allele Identifier: CA558967304

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1347501194
• gnomAD v2: 5-33958588-TCTTA-T
• gnomAD v3: 5-33958483-TCTTA-T
• gnomAD v4: 5-33958483-TCTTA-T
• MyVariant Identifiers: chr5:g.33958589_33958592del (hg19) ; chr5:g.33958484_33958487del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33958487_33958490del , CM000667.2:g.33958487_33958490del	GRCh38
NC_000005.9:g.33958592_33958595del , CM000667.1:g.33958592_33958595del	GRCh37
NC_000005.8:g.33994349_33994352del	NCBI36
NG_011691.2:g.31189_31192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.889-3983_889-3980del MANE Select	ENSP00000296589.4:n.889-3983_889-3980del
ENST00000296589.8:c.889-3983_889-3980del	ENSP00000296589.4:n.889-3983_889-3980del
ENST00000382102.7:c.889-3983_889-3980del	ENSP00000371534.3:n.889-3983_889-3980del
ENST00000509381.1:c.563-3983_563-3980del	ENSP00000421100.1:n.563-3983_563-3980del
ENST00000510600.1:c.364-3983_364-3980del	ENSP00000424010.1:n.364-3983_364-3980del
NM_001012509.3:c.889-3983_889-3980del	NP_001012527.1:n.889-3983_889-3980del
NM_001297417.2:c.563-3983_563-3980del	NP_001284346.2:n.563-3983_563-3980del
NM_016180.4:c.889-3983_889-3980del	NP_057264.3:n.889-3983_889-3980del
XM_011514051.1:c.487-3983_487-3980del	XP_011512353.1:n.487-3983_487-3980del
XR_925620.1:n.1706-3983_1706-3980del
NM_016180.5:c.889-3983_889-3980del MANE Select	NP_057264.4:n.889-3983_889-3980del
NM_001012509.4:c.889-3983_889-3980del	NP_001012527.2:n.889-3983_889-3980del
NM_001297417.3:c.563-3983_563-3980del	NP_001284346.2:n.563-3983_563-3980del
NM_001297417.4:c.563-3983_563-3980del	NP_001284346.2:n.563-3983_563-3980del