Canonical Allele Identifier: CA16041088

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 370460
• ClinVar RCV Id: RCV000410897
• dbSNP Id: rs1057516505
• MyVariant Identifiers: chr6:g.74354205_74354206del (hg19) ; chr6:g.73644482_73644483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644483_73644484del , CM000668.2:g.73644483_73644484del	GRCh38
NC_000006.11:g.74354206_74354207del , CM000668.1:g.74354206_74354207del	GRCh37
NC_000006.10:g.74410927_74410928del	NCBI36
NG_008272.1:g.14532_14533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.215_216del MANE Select	ENSP00000348019.5:p.Thr72AsnfsTer5
ENST00000355773.5:c.215_216del	ENSP00000348019.5:p.Thr72AsnfsTer5
NM_012434.4:c.215_216del	NP_036566.1:p.Thr72AsnfsTer5
XM_005248710.2:c.164_165del	XP_005248767.1:p.Thr55AsnfsTer5
XM_005248711.1:c.17_18del	XP_005248768.1:p.Thr6AsnfsTer5
XM_011535750.1:c.215_216del	XP_011534052.1:p.Thr72AsnfsTer5
XM_011535751.1:c.215_216del	XP_011534053.1:p.Thr72AsnfsTer5
NM_012434.5:c.215_216del MANE Select	NP_036566.1:p.Thr72AsnfsTer5
NM_001382629.1:c.61-2559_61-2558del	NP_001369558.1:n.61-2559_61-2558del
NM_001382630.1:c.215_216del	NP_001369559.1:p.Thr72AsnfsTer5
NM_001382631.1:c.236_237del	NP_001369560.1:p.Thr79AsnfsTer5
NM_001382632.1:c.215_216del	NP_001369561.1:p.Thr72AsnfsTer5
NM_001382633.1:c.215_216del	NP_001369562.1:p.Thr72AsnfsTer5
NM_001382634.1:c.215_216del	NP_001369563.1:p.Thr72AsnfsTer5
NM_001382635.1:c.215_216del	NP_001369564.1:p.Thr72AsnfsTer5
NM_001382636.1:c.61-2559_61-2558del	NP_001369565.1:n.61-2559_61-2558del