Canonical Allele Identifier: CA913111550

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310096dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600373dup , CM000668.2:g.73600373dup	GRCh38
NC_000006.11:g.74310096dup , CM000668.1:g.74310096dup	GRCh37
NC_000006.10:g.74366817dup	NCBI36
NG_008272.1:g.58643dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1329dup MANE Select	ENSP00000348019.5:p.Ala444CysfsTer2
ENST00000355773.5:c.1329dup	ENSP00000348019.5:p.Ala444CysfsTer2
NM_012434.4:c.1329dup	NP_036566.1:p.Ala444CysfsTer2
XM_005248710.2:c.1278dup	XP_005248767.1:p.Ala427CysfsTer2
XM_005248711.1:c.1131dup	XP_005248768.1:p.Ala378CysfsTer2
XM_011535750.1:c.1181dup	XP_011534052.1:p.Leu394PhefsTer?
NM_012434.5:c.1329dup MANE Select	NP_036566.1:p.Ala444CysfsTer2
NM_001382629.1:c.1098dup	NP_001369558.1:p.Ala367CysfsTer2
NM_001382630.1:c.1260-5158dup	NP_001369559.1:n.1260-5158dup
NM_001382631.1:c.1350dup	NP_001369560.1:p.Ala451CysfsTer2
NM_001382632.1:c.1242dup	NP_001369561.1:p.Ala415CysfsTer2
NM_001382633.1:c.1329dup	NP_001369562.1:p.Ala444CysfsTer2
NM_001382634.1:c.1170dup	NP_001369563.1:p.Ala391CysfsTer2
NM_001382635.1:c.1326dup	NP_001369564.1:p.Ala443CysfsTer2
NM_001382636.1:c.1011dup	NP_001369565.1:p.Ala338CysfsTer2