Canonical Allele Identifier: CA2599554379

Gene: SLC17A5

Linked Data

• gnomAD v3: 6-73600254-A-ATT
• gnomAD v4: 6-73600254-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600254_73600255insTT , CM000668.2:g.73600254_73600255insTT	GRCh38
NC_000006.11:g.74309977_74309978insTT , CM000668.1:g.74309977_74309978insTT	GRCh37
NC_000006.10:g.74366698_74366699insTT	NCBI36
NG_008272.1:g.58760_58761insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1350+96_1350+97insAA MANE Select	ENSP00000348019.5:n.1350+96_1350+97insAA
ENST00000355773.5:c.1350+96_1350+97insAA	ENSP00000348019.5:n.1350+96_1350+97insAA
NM_012434.4:c.1350+96_1350+97insAA	NP_036566.1:n.1350+96_1350+97insAA
XM_005248710.2:c.1299+96_1299+97insAA	XP_005248767.1:n.1299+96_1299+97insAA
XM_005248711.1:c.1152+96_1152+97insAA	XP_005248768.1:n.1152+96_1152+97insAA
XM_011535750.1:c.*8+96_*8+97insAA	XP_011534052.1:n.*8+96_*8+97insAA
NM_012434.5:c.1350+96_1350+97insAA MANE Select	NP_036566.1:n.1350+96_1350+97insAA
NM_001382629.1:c.1119+96_1119+97insAA	NP_001369558.1:n.1119+96_1119+97insAA
NM_001382630.1:c.1260-5041_1260-5040insAA	NP_001369559.1:n.1260-5041_1260-5040insAA...
NM_001382631.1:c.1371+96_1371+97insAA	NP_001369560.1:n.1371+96_1371+97insAA
NM_001382632.1:c.1263+96_1263+97insAA	NP_001369561.1:n.1263+96_1263+97insAA
NM_001382633.1:c.1350+96_1350+97insAA	NP_001369562.1:n.1350+96_1350+97insAA
NM_001382634.1:c.1191+96_1191+97insAA	NP_001369563.1:n.1191+96_1191+97insAA
NM_001382635.1:c.1347+96_1347+97insAA	NP_001369564.1:n.1347+96_1347+97insAA
NM_001382636.1:c.1032+96_1032+97insAA	NP_001369565.1:n.1032+96_1032+97insAA