Canonical Allele Identifier: CA2679403384

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600509-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600509_73600510insAA , CM000668.2:g.73600509_73600510insAA	GRCh38
NC_000006.11:g.74310232_74310233insAA , CM000668.1:g.74310232_74310233insAA	GRCh37
NC_000006.10:g.74366953_74366954insAA	NCBI36
NG_008272.1:g.58505_58506insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-69_1260-68insTT MANE Select	ENSP00000348019.5:n.1260-69_1260-68insTT
ENST00000355773.5:c.1260-69_1260-68insTT	ENSP00000348019.5:n.1260-69_1260-68insTT
NM_012434.4:c.1260-69_1260-68insTT	NP_036566.1:n.1260-69_1260-68insTT
XM_005248710.2:c.1209-69_1209-68insTT	XP_005248767.1:n.1209-69_1209-68insTT
XM_005248711.1:c.1062-69_1062-68insTT	XP_005248768.1:n.1062-69_1062-68insTT
XM_011535750.1:c.1112-69_1112-68insTT	XP_011534052.1:n.1112-69_1112-68insTT
NM_012434.5:c.1260-69_1260-68insTT MANE Select	NP_036566.1:n.1260-69_1260-68insTT
NM_001382629.1:c.1029-69_1029-68insTT	NP_001369558.1:n.1029-69_1029-68insTT
NM_001382630.1:c.1260-5296_1260-5295insTT	NP_001369559.1:n.1260-5296_1260-5295insTT
NM_001382631.1:c.1281-69_1281-68insTT	NP_001369560.1:n.1281-69_1281-68insTT
NM_001382632.1:c.1173-69_1173-68insTT	NP_001369561.1:n.1173-69_1173-68insTT
NM_001382633.1:c.1260-69_1260-68insTT	NP_001369562.1:n.1260-69_1260-68insTT
NM_001382634.1:c.1101-69_1101-68insTT	NP_001369563.1:n.1101-69_1101-68insTT
NM_001382635.1:c.1257-69_1257-68insTT	NP_001369564.1:n.1257-69_1257-68insTT
NM_001382636.1:c.942-69_942-68insTT	NP_001369565.1:n.942-69_942-68insTT