Canonical Allele Identifier: CA2499218525

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1074913
• ClinVar RCV Id: RCV001388359
• dbSNP Id: rs2150120888
• gnomAD v4: 6-73644551-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644553del , CM000668.2:g.73644553del	GRCh38
NC_000006.11:g.74354276del , CM000668.1:g.74354276del	GRCh37
NC_000006.10:g.74410997del	NCBI36
NG_008272.1:g.14463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.146del MANE Select	ENSP00000348019.5:p.Gly49ValfsTer10
ENST00000355773.5:c.146del	ENSP00000348019.5:p.Gly49ValfsTer10
NM_012434.4:c.146del	NP_036566.1:p.Gly49ValfsTer10
XM_005248710.2:c.95del	XP_005248767.1:p.Gly32ValfsTer10
XM_005248711.1:c.-53del	XP_005248768.1:n.-53del
XM_011535750.1:c.146del	XP_011534052.1:p.Gly49ValfsTer10
XM_011535751.1:c.146del	XP_011534053.1:p.Gly49ValfsTer10
NM_012434.5:c.146del MANE Select	NP_036566.1:p.Gly49ValfsTer10
NM_001382629.1:c.61-2628del	NP_001369558.1:n.61-2628del
NM_001382630.1:c.146del	NP_001369559.1:p.Gly49ValfsTer10
NM_001382631.1:c.167del	NP_001369560.1:p.Gly56ValfsTer10
NM_001382632.1:c.146del	NP_001369561.1:p.Gly49ValfsTer10
NM_001382633.1:c.146del	NP_001369562.1:p.Gly49ValfsTer10
NM_001382634.1:c.146del	NP_001369563.1:p.Gly49ValfsTer10
NM_001382635.1:c.146del	NP_001369564.1:p.Gly49ValfsTer10
NM_001382636.1:c.61-2628del	NP_001369565.1:n.61-2628del