Canonical Allele Identifier: CA558967714

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1403514043
• gnomAD v2: 5-33964111-AC-A
• gnomAD v3: 5-33964006-AC-A
• gnomAD v4: 5-33964006-AC-A
• MyVariant Identifiers: chr5:g.33964112del (hg19) ; chr5:g.33964007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33964008del , CM000667.2:g.33964008del	GRCh38
NC_000005.9:g.33964113del , CM000667.1:g.33964113del	GRCh37
NC_000005.8:g.33999870del	NCBI36
NG_011691.2:g.25669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.572del MANE Select	ENSP00000296589.4:p.Gly191ValfsTer10
ENST00000296589.8:c.572del	ENSP00000296589.4:p.Gly191ValfsTer10
ENST00000382102.7:c.572del	ENSP00000371534.3:p.Gly191ValfsTer10
ENST00000505056.1:n.374del
ENST00000509381.1:c.563-9503del	ENSP00000421100.1:n.563-9503del
ENST00000510600.1:c.47del	ENSP00000424010.1:p.Gly16ValfsTer10
NM_001012509.3:c.572del	NP_001012527.1:p.Gly191ValfsTer10
NM_001297417.2:c.563-9503del	NP_001284346.2:n.563-9503del
NM_016180.4:c.572del	NP_057264.3:p.Gly191ValfsTer10
XM_011514051.1:c.170del	XP_011512353.1:p.Gly57ValfsTer10
XM_011514052.1:c.572del	XP_011512354.1:p.Gly191ValfsTer10
XR_925620.1:n.1389del
NM_016180.5:c.572del MANE Select	NP_057264.4:p.Gly191ValfsTer10
NM_001012509.4:c.572del	NP_001012527.2:p.Gly191ValfsTer10
NM_001297417.3:c.563-9503del	NP_001284346.2:n.563-9503del
NM_001297417.4:c.563-9503del	NP_001284346.2:n.563-9503del