Canonical Allele Identifier: CA2578669494

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600277_73600282del , CM000668.2:g.73600277_73600282del	GRCh38
NC_000006.11:g.74310000_74310005del , CM000668.1:g.74310000_74310005del	GRCh37
NC_000006.10:g.74366721_74366726del	NCBI36
NG_008272.1:g.58736_58741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1350+72_1350+77del MANE Select	ENSP00000348019.5:n.1350+72_1350+77del
ENST00000355773.5:c.1350+72_1350+77del	ENSP00000348019.5:n.1350+72_1350+77del
NM_012434.4:c.1350+72_1350+77del	NP_036566.1:n.1350+72_1350+77del
XM_005248710.2:c.1299+72_1299+77del	XP_005248767.1:n.1299+72_1299+77del
XM_005248711.1:c.1152+72_1152+77del	XP_005248768.1:n.1152+72_1152+77del
XM_011535750.1:c.*8+72_*8+77del	XP_011534052.1:n.*8+72_*8+77del
NM_012434.5:c.1350+72_1350+77del MANE Select	NP_036566.1:n.1350+72_1350+77del
NM_001382629.1:c.1119+72_1119+77del	NP_001369558.1:n.1119+72_1119+77del
NM_001382630.1:c.1260-5065_1260-5060del	NP_001369559.1:n.1260-5065_1260-5060del
NM_001382631.1:c.1371+72_1371+77del	NP_001369560.1:n.1371+72_1371+77del
NM_001382632.1:c.1263+72_1263+77del	NP_001369561.1:n.1263+72_1263+77del
NM_001382633.1:c.1350+72_1350+77del	NP_001369562.1:n.1350+72_1350+77del
NM_001382634.1:c.1191+72_1191+77del	NP_001369563.1:n.1191+72_1191+77del
NM_001382635.1:c.1347+72_1347+77del	NP_001369564.1:n.1347+72_1347+77del
NM_001382636.1:c.1032+72_1032+77del	NP_001369565.1:n.1032+72_1032+77del