Canonical Allele Identifier: CA2679403315

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600423-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600424del , CM000668.2:g.73600424del	GRCh38
NC_000006.11:g.74310147del , CM000668.1:g.74310147del	GRCh37
NC_000006.10:g.74366868del	NCBI36
NG_008272.1:g.58591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1277del MANE Select	ENSP00000348019.5:p.Leu426ArgfsTer22
ENST00000355773.5:c.1277del	ENSP00000348019.5:p.Leu426ArgfsTer22
NM_012434.4:c.1277del	NP_036566.1:p.Leu426ArgfsTer22
XM_005248710.2:c.1226del	XP_005248767.1:p.Leu409ArgfsTer22
XM_005248711.1:c.1079del	XP_005248768.1:p.Leu360ArgfsTer22
XM_011535750.1:c.1129del	XP_011534052.1:p.Trp377GlyfsTer19
NM_012434.5:c.1277del MANE Select	NP_036566.1:p.Leu426ArgfsTer22
NM_001382629.1:c.1046del	NP_001369558.1:p.Leu349ArgfsTer22
NM_001382630.1:c.1260-5210del	NP_001369559.1:n.1260-5210del
NM_001382631.1:c.1298del	NP_001369560.1:p.Leu433ArgfsTer22
NM_001382632.1:c.1190del	NP_001369561.1:p.Leu397ArgfsTer22
NM_001382633.1:c.1277del	NP_001369562.1:p.Leu426ArgfsTer22
NM_001382634.1:c.1118del	NP_001369563.1:p.Leu373ArgfsTer22
NM_001382635.1:c.1274del	NP_001369564.1:p.Leu425ArgfsTer22
NM_001382636.1:c.959del	NP_001369565.1:p.Leu320ArgfsTer22