Canonical Allele Identifier: CA2679403381

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600508-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600508_73600509insA , CM000668.2:g.73600508_73600509insA	GRCh38
NC_000006.11:g.74310231_74310232insA , CM000668.1:g.74310231_74310232insA	GRCh37
NC_000006.10:g.74366952_74366953insA	NCBI36
NG_008272.1:g.58506_58507insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-68_1260-67insT MANE Select	ENSP00000348019.5:n.1260-68_1260-67insT
ENST00000355773.5:c.1260-68_1260-67insT	ENSP00000348019.5:n.1260-68_1260-67insT
NM_012434.4:c.1260-68_1260-67insT	NP_036566.1:n.1260-68_1260-67insT
XM_005248710.2:c.1209-68_1209-67insT	XP_005248767.1:n.1209-68_1209-67insT
XM_005248711.1:c.1062-68_1062-67insT	XP_005248768.1:n.1062-68_1062-67insT
XM_011535750.1:c.1112-68_1112-67insT	XP_011534052.1:n.1112-68_1112-67insT
NM_012434.5:c.1260-68_1260-67insT MANE Select	NP_036566.1:n.1260-68_1260-67insT
NM_001382629.1:c.1029-68_1029-67insT	NP_001369558.1:n.1029-68_1029-67insT
NM_001382630.1:c.1260-5295_1260-5294insT	NP_001369559.1:n.1260-5295_1260-5294insT
NM_001382631.1:c.1281-68_1281-67insT	NP_001369560.1:n.1281-68_1281-67insT
NM_001382632.1:c.1173-68_1173-67insT	NP_001369561.1:n.1173-68_1173-67insT
NM_001382633.1:c.1260-68_1260-67insT	NP_001369562.1:n.1260-68_1260-67insT
NM_001382634.1:c.1101-68_1101-67insT	NP_001369563.1:n.1101-68_1101-67insT
NM_001382635.1:c.1257-68_1257-67insT	NP_001369564.1:n.1257-68_1257-67insT
NM_001382636.1:c.942-68_942-67insT	NP_001369565.1:n.942-68_942-67insT