Canonical Allele Identifier: CA558966571

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1561357043
• gnomAD v2: 5-33951746-AGTTGTGTGCACTATAGGGATCCCCGCG-A
• gnomAD v4: 5-33951641-AGTTGTGTGCACTATAGGGATCCCCGCG-A
• MyVariant Identifiers: chr5:g.33951747_33951773del (hg19) ; chr5:g.33951642_33951668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951644_33951670del , CM000667.2:g.33951644_33951670del	GRCh38
NC_000005.9:g.33951749_33951775del , CM000667.1:g.33951749_33951775del	GRCh37
NC_000005.8:g.33987506_33987532del	NCBI36
NG_011691.2:g.38008_38034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1042_1068del MANE Select	ENSP00000296589.4:p.Arg348_Asn356del
ENST00000296589.8:c.1042_1068del	ENSP00000296589.4:p.Arg348_Asn356del
ENST00000382102.7:c.1042_1068del	ENSP00000371534.3:p.Arg348_Asn356del
ENST00000509381.1:c.716_*10del	ENSP00000421100.1:n.[c.716_*10del;Pro239LeufsTer?]
ENST00000510600.1:c.517_543del	ENSP00000424010.1:p.Arg173_Asn181del
NM_001012509.3:c.1042_1068del	NP_001012527.1:p.Arg348_Asn356del
NM_001297417.2:c.716_*10del	NP_001284346.2:n.[c.716_*10del;Pro239LeufsTer?]
NM_016180.4:c.1042_1068del	NP_057264.3:p.Arg348_Asn356del
XM_011514051.1:c.640_666del	XP_011512353.1:p.Arg214_Asn222del
XR_925620.1:n.1859_1885del
NM_016180.5:c.1042_1068del MANE Select	NP_057264.4:p.Arg348_Asn356del
NM_001012509.4:c.1042_1068del	NP_001012527.2:p.Arg348_Asn356del
NM_001297417.3:c.716_*10del	NP_001284346.2:n.[c.716_*10del;Pro239LeufsTer?]
NM_001297417.4:c.716_*10del	NP_001284346.2:n.[c.716_*10del;Pro239LeufsTer?]