Canonical Allele Identifier: CA2578669520

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600427del , CM000668.2:g.73600427del	GRCh38
NC_000006.11:g.74310150del , CM000668.1:g.74310150del	GRCh37
NC_000006.10:g.74366871del	NCBI36
NG_008272.1:g.58588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1274del MANE Select	ENSP00000348019.5:p.Leu425ProfsTer23
ENST00000355773.5:c.1274del	ENSP00000348019.5:p.Leu425ProfsTer23
NM_012434.4:c.1274del	NP_036566.1:p.Leu425ProfsTer23
XM_005248710.2:c.1223del	XP_005248767.1:p.Leu408ProfsTer23
XM_005248711.1:c.1076del	XP_005248768.1:p.Leu359ProfsTer23
XM_011535750.1:c.1126del	XP_011534052.1:p.Ser376ProfsTer20
NM_012434.5:c.1274del MANE Select	NP_036566.1:p.Leu425ProfsTer23
NM_001382629.1:c.1043del	NP_001369558.1:p.Leu348ProfsTer23
NM_001382630.1:c.1260-5213del	NP_001369559.1:n.1260-5213del
NM_001382631.1:c.1295del	NP_001369560.1:p.Leu432ProfsTer23
NM_001382632.1:c.1187del	NP_001369561.1:p.Leu396ProfsTer23
NM_001382633.1:c.1274del	NP_001369562.1:p.Leu425ProfsTer23
NM_001382634.1:c.1115del	NP_001369563.1:p.Leu372ProfsTer23
NM_001382635.1:c.1271del	NP_001369564.1:p.Leu424ProfsTer23
NM_001382636.1:c.956del	NP_001369565.1:p.Leu319ProfsTer23