Canonical Allele Identifier: CA3890574

Gene: SLC17A5

Linked Data

• dbSNP Id: rs777661631
• ExAC: 6:74354138 TATG / T
• gnomAD v2: 6-74354138-TATG-T
• gnomAD v4: 6-73644415-TATG-T
• MyVariant Identifiers: chr6:g.74354139_74354141del (hg19) ; chr6:g.73644416_73644418del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644420_73644422del , CM000668.2:g.73644420_73644422del	GRCh38
NC_000006.11:g.74354143_74354145del , CM000668.1:g.74354143_74354145del	GRCh37
NC_000006.10:g.74410864_74410866del	NCBI36
NG_008272.1:g.14597_14599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.280_282del MANE Select	ENSP00000348019.5:p.His94del
ENST00000355773.5:c.280_282del	ENSP00000348019.5:p.His94del
ENST00000481996.1:n.46_48del
NM_012434.4:c.280_282del	NP_036566.1:p.His94del
XM_005248710.2:c.229_231del	XP_005248767.1:p.His77del
XM_005248711.1:c.82_84del	XP_005248768.1:p.His28del
XM_011535750.1:c.280_282del	XP_011534052.1:p.His94del
XM_011535751.1:c.280_282del	XP_011534053.1:p.His94del
NM_012434.5:c.280_282del MANE Select	NP_036566.1:p.His94del
NM_001382629.1:c.61-2494_61-2492del	NP_001369558.1:n.61-2494_61-2492del
NM_001382630.1:c.280_282del	NP_001369559.1:p.His94del
NM_001382631.1:c.301_303del	NP_001369560.1:p.His101del
NM_001382632.1:c.280_282del	NP_001369561.1:p.His94del
NM_001382633.1:c.280_282del	NP_001369562.1:p.His94del
NM_001382634.1:c.280_282del	NP_001369563.1:p.His94del
NM_001382635.1:c.280_282del	NP_001369564.1:p.His94del
NM_001382636.1:c.61-2494_61-2492del	NP_001369565.1:n.61-2494_61-2492del