Canonical Allele Identifier: CA2679403313

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600353-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600354del , CM000668.2:g.73600354del	GRCh38
NC_000006.11:g.74310077del , CM000668.1:g.74310077del	GRCh37
NC_000006.10:g.74366798del	NCBI36
NG_008272.1:g.58661del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1347del MANE Select	ENSP00000348019.5:p.Asp450IlefsTer?
ENST00000355773.5:c.1347del	ENSP00000348019.5:p.Asp450IlefsTer?
NM_012434.4:c.1347del	NP_036566.1:p.Asp450IlefsTer?
XM_005248710.2:c.1296del	XP_005248767.1:p.Asp433IlefsTer?
XM_005248711.1:c.1149del	XP_005248768.1:p.Asp384IlefsTer?
XM_011535750.1:c.*5del	XP_011534052.1:n.*5del
NM_012434.5:c.1347del MANE Select	NP_036566.1:p.Asp450IlefsTer?
NM_001382629.1:c.1116del	NP_001369558.1:p.Asp373IlefsTer?
NM_001382630.1:c.1260-5140del	NP_001369559.1:n.1260-5140del
NM_001382631.1:c.1368del	NP_001369560.1:p.Asp457IlefsTer?
NM_001382632.1:c.1260del	NP_001369561.1:p.Asp421IlefsTer?
NM_001382633.1:c.1347del	NP_001369562.1:p.Asp450MetfsTer?
NM_001382634.1:c.1188del	NP_001369563.1:p.Asp397IlefsTer?
NM_001382635.1:c.1344del	NP_001369564.1:p.Asp449IlefsTer?
NM_001382636.1:c.1029del	NP_001369565.1:p.Asp344IlefsTer?