Canonical Allele Identifier: CA1090523203

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1766990271
• gnomAD v3: 6-73600167-CTA-C
• gnomAD v4: 6-73600167-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600168_73600169del , CM000668.2:g.73600168_73600169del	GRCh38
NC_000006.11:g.74309891_74309892del , CM000668.1:g.74309891_74309892del	GRCh37
NC_000006.10:g.74366612_74366613del	NCBI36
NG_008272.1:g.58846_58847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1350+182_1350+183del MANE Select	ENSP00000348019.5:n.1350+182_1350+183del
ENST00000355773.5:c.1350+182_1350+183del	ENSP00000348019.5:n.1350+182_1350+183del
NM_012434.4:c.1350+182_1350+183del	NP_036566.1:n.1350+182_1350+183del
XM_005248710.2:c.1299+182_1299+183del	XP_005248767.1:n.1299+182_1299+183del
XM_005248711.1:c.1152+182_1152+183del	XP_005248768.1:n.1152+182_1152+183del
XM_011535750.1:c.*8+182_*8+183del	XP_011534052.1:n.*8+182_*8+183del
NM_012434.5:c.1350+182_1350+183del MANE Select	NP_036566.1:n.1350+182_1350+183del
NM_001382629.1:c.1119+182_1119+183del	NP_001369558.1:n.1119+182_1119+183del
NM_001382630.1:c.1260-4955_1260-4954del	NP_001369559.1:n.1260-4955_1260-4954del
NM_001382631.1:c.1371+182_1371+183del	NP_001369560.1:n.1371+182_1371+183del
NM_001382632.1:c.1263+182_1263+183del	NP_001369561.1:n.1263+182_1263+183del
NM_001382633.1:c.1350+182_1350+183del	NP_001369562.1:n.1350+182_1350+183del
NM_001382634.1:c.1191+182_1191+183del	NP_001369563.1:n.1191+182_1191+183del
NM_001382635.1:c.1347+182_1347+183del	NP_001369564.1:n.1347+182_1347+183del
NM_001382636.1:c.1032+182_1032+183del	NP_001369565.1:n.1032+182_1032+183del