Canonical Allele Identifier: CA2679403370

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600505-C-CTTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600507_73600508insATTT , CM000668.2:g.73600507_73600508insATTT	GRCh38
NC_000006.11:g.74310230_74310231insATTT , CM000668.1:g.74310230_74310231insATTT	GRCh37
NC_000006.10:g.74366951_74366952insATTT	NCBI36
NG_008272.1:g.58509_58510insATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-65_1260-64insATAA MANE Select	ENSP00000348019.5:n.1260-65_1260-64insATAA
ENST00000355773.5:c.1260-65_1260-64insATAA	ENSP00000348019.5:n.1260-65_1260-64insATAA
NM_012434.4:c.1260-65_1260-64insATAA	NP_036566.1:n.1260-65_1260-64insATAA
XM_005248710.2:c.1209-65_1209-64insATAA	XP_005248767.1:n.1209-65_1209-64insATAA
XM_005248711.1:c.1062-65_1062-64insATAA	XP_005248768.1:n.1062-65_1062-64insATAA
XM_011535750.1:c.1112-65_1112-64insATAA	XP_011534052.1:n.1112-65_1112-64insATAA
NM_012434.5:c.1260-65_1260-64insATAA MANE Select	NP_036566.1:n.1260-65_1260-64insATAA
NM_001382629.1:c.1029-65_1029-64insATAA	NP_001369558.1:n.1029-65_1029-64insATAA
NM_001382630.1:c.1260-5292_1260-5291insATAA	NP_001369559.1:n.1260-5292_1260-5291insATAA
NM_001382631.1:c.1281-65_1281-64insATAA	NP_001369560.1:n.1281-65_1281-64insATAA
NM_001382632.1:c.1173-65_1173-64insATAA	NP_001369561.1:n.1173-65_1173-64insATAA
NM_001382633.1:c.1260-65_1260-64insATAA	NP_001369562.1:n.1260-65_1260-64insATAA
NM_001382634.1:c.1101-65_1101-64insATAA	NP_001369563.1:n.1101-65_1101-64insATAA
NM_001382635.1:c.1257-65_1257-64insATAA	NP_001369564.1:n.1257-65_1257-64insATAA
NM_001382636.1:c.942-65_942-64insATAA	NP_001369565.1:n.942-65_942-64insATAA