Canonical Allele Identifier: CA116903943

Gene: SLC45A2

Linked Data

• dbSNP Id: rs148364566
• MyVariant Identifiers: chr5:g.33984660_33984661insGGGG (hg19) ; chr5:g.33984555_33984556insGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984557_33984558insGGGG , CM000667.2:g.33984557_33984558insGGGG	GRCh38
NC_000005.9:g.33984662_33984663insGGGG , CM000667.1:g.33984662_33984663insGGGG	GRCh37
NC_000005.8:g.34020419_34020420insGGGG	NCBI36
NG_011691.2:g.5120_5121insCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.28_29insCCCC MANE Select	ENSP00000296589.4:p.Arg10ProfsTer6
ENST00000296589.8:c.28_29insCCCC	ENSP00000296589.4:p.Arg10ProfsTer6
ENST00000382102.7:c.28_29insCCCC	ENSP00000371534.3:p.Arg10ProfsTer6
ENST00000505056.1:n.7_8insCCCC
ENST00000509381.1:c.28_29insCCCC	ENSP00000421100.1:p.Arg10ProfsTer6
NM_001012509.3:c.28_29insCCCC	NP_001012527.1:p.Arg10ProfsTer6
NM_001297417.2:c.28_29insCCCC	NP_001284346.2:p.Arg10ProfsTer6
NM_016180.4:c.28_29insCCCC	NP_057264.3:p.Arg10ProfsTer6
XM_011514052.1:c.28_29insCCCC	XP_011512354.1:p.Arg10ProfsTer6
XR_925620.1:n.589_590insCCCC
NM_016180.5:c.28_29insCCCC MANE Select	NP_057264.4:p.Arg10ProfsTer6
NM_001012509.4:c.28_29insCCCC	NP_001012527.2:p.Arg10ProfsTer6
NM_001297417.3:c.28_29insCCCC	NP_001284346.2:p.Arg10ProfsTer6
NM_001297417.4:c.28_29insCCCC	NP_001284346.2:p.Arg10ProfsTer6