Canonical Allele Identifier: CA827949192

Gene: SLC17A5

Linked Data

• dbSNP Id: rs1164112167
• MyVariant Identifiers: chr6:g.74310019_74310020del (hg19) ; chr6:g.73600296_73600297del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600299_73600300del , CM000668.2:g.73600299_73600300del	GRCh38
NC_000006.11:g.74310022_74310023del , CM000668.1:g.74310022_74310023del	GRCh37
NC_000006.10:g.74366743_74366744del	NCBI36
NG_008272.1:g.58718_58719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1350+54_1350+55del MANE Select	ENSP00000348019.5:n.1350+54_1350+55del
ENST00000355773.5:c.1350+54_1350+55del	ENSP00000348019.5:n.1350+54_1350+55del
NM_012434.4:c.1350+54_1350+55del	NP_036566.1:n.1350+54_1350+55del
XM_005248710.2:c.1299+54_1299+55del	XP_005248767.1:n.1299+54_1299+55del
XM_005248711.1:c.1152+54_1152+55del	XP_005248768.1:n.1152+54_1152+55del
XM_011535750.1:c.*8+54_*8+55del	XP_011534052.1:n.*8+54_*8+55del
NM_012434.5:c.1350+54_1350+55del MANE Select	NP_036566.1:n.1350+54_1350+55del
NM_001382629.1:c.1119+54_1119+55del	NP_001369558.1:n.1119+54_1119+55del
NM_001382630.1:c.1260-5083_1260-5082del	NP_001369559.1:n.1260-5083_1260-5082del
NM_001382631.1:c.1371+54_1371+55del	NP_001369560.1:n.1371+54_1371+55del
NM_001382632.1:c.1263+54_1263+55del	NP_001369561.1:n.1263+54_1263+55del
NM_001382633.1:c.1350+54_1350+55del	NP_001369562.1:n.1350+54_1350+55del
NM_001382634.1:c.1191+54_1191+55del	NP_001369563.1:n.1191+54_1191+55del
NM_001382635.1:c.1347+54_1347+55del	NP_001369564.1:n.1347+54_1347+55del
NM_001382636.1:c.1032+54_1032+55del	NP_001369565.1:n.1032+54_1032+55del