Canonical Allele Identifier: CA2697553550

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 2708289
• ClinVar RCV Id: RCV003505921

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644433del , CM000668.2:g.73644433del	GRCh38
NC_000006.11:g.74354156del , CM000668.1:g.74354156del	GRCh37
NC_000006.10:g.74410877del	NCBI36
NG_008272.1:g.14584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.267del MANE Select	ENSP00000348019.5:p.Ile90Ter
ENST00000355773.5:c.267del	ENSP00000348019.5:p.Ile90Ter
ENST00000481996.1:n.33del
NM_012434.4:c.267del	NP_036566.1:p.Ile90Ter
XM_005248710.2:c.216del	XP_005248767.1:p.Ile73Ter
XM_005248711.1:c.69del	XP_005248768.1:p.Ile24Ter
XM_011535750.1:c.267del	XP_011534052.1:p.Ile90Ter
XM_011535751.1:c.267del	XP_011534053.1:p.Ile90Ter
NM_012434.5:c.267del MANE Select	NP_036566.1:p.Ile90Ter
NM_001382629.1:c.61-2507del	NP_001369558.1:n.61-2507del
NM_001382630.1:c.267del	NP_001369559.1:p.Ile90Ter
NM_001382631.1:c.288del	NP_001369560.1:p.Ile97Ter
NM_001382632.1:c.267del	NP_001369561.1:p.Ile90Ter
NM_001382633.1:c.267del	NP_001369562.1:p.Ile90Ter
NM_001382634.1:c.267del	NP_001369563.1:p.Ile90Ter
NM_001382635.1:c.267del	NP_001369564.1:p.Ile90Ter
NM_001382636.1:c.61-2507del	NP_001369565.1:n.61-2507del