Canonical Allele Identifier: CA1638225379

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644301_73644305delinsCACAA , CM000668.2:g.73644301_73644305delinsCACAA	GRCh38
NC_000006.11:g.74354024_74354028delinsCACAA , CM000668.1:g.74354024_74354028delinsCACAA	GRCh37
NC_000006.10:g.74410745_74410749delinsCACAA	NCBI36
NG_008272.1:g.14710_14714delinsTTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.291+102_291+106delinsTTGTG MANE Select	ENSP00000348019.5:n.291+102_291+106delinsTTGTG
ENST00000355773.5:c.291+102_291+106delinsTTGTG	ENSP00000348019.5:n.291+102_291+106delinsTTGTG
ENST00000481996.1:n.57+102_57+106delinsTTGTG
NM_012434.4:c.291+102_291+106delinsTTGTG	NP_036566.1:n.291+102_291+106delinsTTGTG
XM_005248710.2:c.240+102_240+106delinsTTGTG	XP_005248767.1:n.240+102_240+106delinsTTGTG
XM_005248711.1:c.93+102_93+106delinsTTGTG	XP_005248768.1:n.93+102_93+106delinsTTGTG
XM_011535750.1:c.291+102_291+106delinsTTGTG	XP_011534052.1:n.291+102_291+106delinsTTGTG
XM_011535751.1:c.291+102_291+106delinsTTGTG	XP_011534053.1:n.291+102_291+106delinsTTGTG
NM_012434.5:c.291+102_291+106delinsTTGTG MANE Select	NP_036566.1:n.291+102_291+106delinsTTGTG
NM_001382629.1:c.61-2381_61-2377delinsTTGTG	NP_001369558.1:n.61-2381_61-2377delinsTTGTG
NM_001382630.1:c.291+102_291+106delinsTTGTG	NP_001369559.1:n.291+102_291+106delinsTTGTG
NM_001382631.1:c.312+102_312+106delinsTTGTG	NP_001369560.1:n.312+102_312+106delinsTTGTG
NM_001382632.1:c.291+102_291+106delinsTTGTG	NP_001369561.1:n.291+102_291+106delinsTTGTG
NM_001382633.1:c.291+102_291+106delinsTTGTG	NP_001369562.1:n.291+102_291+106delinsTTGTG
NM_001382634.1:c.291+102_291+106delinsTTGTG	NP_001369563.1:n.291+102_291+106delinsTTGTG
NM_001382635.1:c.291+102_291+106delinsTTGTG	NP_001369564.1:n.291+102_291+106delinsTTGTG
NM_001382636.1:c.61-2381_61-2377delinsTTGTG	NP_001369565.1:n.61-2381_61-2377delinsTTGTG