Canonical Allele Identifier: CA116890616

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1458973
• ClinVar RCV Id: RCV001958781
• dbSNP Id: rs868280865
• gnomAD v2: 5-33964066-C-CTCCA
• gnomAD v3: 5-33963961-C-CTCCA
• gnomAD v4: 5-33963961-C-CTCCA
• MyVariant Identifiers: chr5:g.33964066_33964067insTCCA (hg19) ; chr5:g.33963961_33963962insTCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963962_33963965dup , CM000667.2:g.33963962_33963965dup	GRCh38
NC_000005.9:g.33964067_33964070dup , CM000667.1:g.33964067_33964070dup	GRCh37
NC_000005.8:g.33999824_33999827dup	NCBI36
NG_011691.2:g.25711_25714dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.614_617dup MANE Select	ENSP00000296589.4:p.Glu206AspfsTer?
ENST00000296589.8:c.614_617dup	ENSP00000296589.4:p.Glu206AspfsTer?
ENST00000382102.7:c.614_617dup	ENSP00000371534.3:p.Glu206AspfsTer?
ENST00000505056.1:n.416_419dup
ENST00000509381.1:c.563-9461_563-9458dup	ENSP00000421100.1:n.563-9461_563-9458dup
ENST00000510600.1:c.89_92dup	ENSP00000424010.1:p.Glu31AspfsTer?
NM_001012509.3:c.614_617dup	NP_001012527.1:p.Glu206AspfsTer?
NM_001297417.2:c.563-9461_563-9458dup	NP_001284346.2:n.563-9461_563-9458dup
NM_016180.4:c.614_617dup	NP_057264.3:p.Glu206AspfsTer?
XM_011514051.1:c.212_215dup	XP_011512353.1:p.Glu72AspfsTer?
XM_011514052.1:c.614_617dup	XP_011512354.1:p.Glu206AspfsTer?
XR_925620.1:n.1431_1434dup
NM_016180.5:c.614_617dup MANE Select	NP_057264.4:p.Glu206AspfsTer?
NM_001012509.4:c.614_617dup	NP_001012527.2:p.Glu206AspfsTer?
NM_001297417.3:c.563-9461_563-9458dup	NP_001284346.2:n.563-9461_563-9458dup
NM_001297417.4:c.563-9461_563-9458dup	NP_001284346.2:n.563-9461_563-9458dup