Canonical Allele Identifier: CA2544609036

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644465_73644466insATCA , CM000668.2:g.73644465_73644466insATCA	GRCh38
NC_000006.11:g.74354188_74354189insATCA , CM000668.1:g.74354188_74354189insATCA	GRCh37
NC_000006.10:g.74410909_74410910insATCA	NCBI36
NG_008272.1:g.14549_14550insTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.232_233insTGAT MANE Select	ENSP00000348019.5:p.Arg78MetfsTer19
ENST00000355773.5:c.232_233insTGAT	ENSP00000348019.5:p.Arg78MetfsTer19
NM_012434.4:c.232_233insTGAT	NP_036566.1:p.Arg78MetfsTer19
XM_005248710.2:c.181_182insTGAT	XP_005248767.1:p.Arg61MetfsTer19
XM_005248711.1:c.34_35insTGAT	XP_005248768.1:p.Arg12MetfsTer19
XM_011535750.1:c.232_233insTGAT	XP_011534052.1:p.Arg78MetfsTer19
XM_011535751.1:c.232_233insTGAT	XP_011534053.1:p.Arg78MetfsTer19
NM_012434.5:c.232_233insTGAT MANE Select	NP_036566.1:p.Arg78MetfsTer19
NM_001382629.1:c.61-2542_61-2541insTGAT	NP_001369558.1:n.61-2542_61-2541insTGAT
NM_001382630.1:c.232_233insTGAT	NP_001369559.1:p.Arg78MetfsTer19
NM_001382631.1:c.253_254insTGAT	NP_001369560.1:p.Arg85MetfsTer19
NM_001382632.1:c.232_233insTGAT	NP_001369561.1:p.Arg78MetfsTer19
NM_001382633.1:c.232_233insTGAT	NP_001369562.1:p.Arg78MetfsTer19
NM_001382634.1:c.232_233insTGAT	NP_001369563.1:p.Arg78MetfsTer19
NM_001382635.1:c.232_233insTGAT	NP_001369564.1:p.Arg78MetfsTer19
NM_001382636.1:c.61-2542_61-2541insTGAT	NP_001369565.1:n.61-2542_61-2541insTGAT