Canonical Allele Identifier: CA1583137718
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370182_132370183delinsGC , CM000667.2:g.132370182_132370183delinsGC GRCh38
NC_000005.9:g.131705874_131705875delinsGC , CM000667.1:g.131705874_131705875delinsGC GRCh37
NC_000005.8:g.131733773_131733774delinsGC NCBI36
NG_008982.1:g.5474_5475delinsGC
NG_008982.2:g.5479_5480delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.210_211delinsGC ENSP00000388838.2:p.Arg70=
ENST00000435065.7:c.210_211delinsGC ENSP00000402760.2:p.Arg70=
ENST00000448810.6:c.210_211delinsGC ENSP00000401860.2:p.Arg70=
ENST00000686757.1:c.210_211delinsGC ENSP00000510721.1:p.Arg70=
ENST00000687740.1:n.344_345delinsGC
ENST00000689271.1:c.210_211delinsGC ENSP00000510797.1:p.Arg70=
ENST00000690900.1:c.210_211delinsGC ENSP00000510703.1:p.Arg70=
ENST00000692413.1:c.210_211delinsGC ENSP00000509374.1:p.Arg70=
ENST00000692825.1:c.210_211delinsGC ENSP00000509447.1:p.Arg70=
ENST00000693308.1:c.210_211delinsGC ENSP00000509770.1:p.Arg70=
ENST00000693763.1:n.344_345delinsGC
ENST00000245407.8:c.210_211delinsGC MANE Select ENSP00000245407.3:p.Arg70=
ENST00000245407.7:c.210_211delinsGC ENSP00000245407.3:p.Arg70=
ENST00000435065.6:c.210_211delinsGC ENSP00000402760.2:p.Arg70=
ENST00000437841.6:c.210_211delinsGC ENSP00000400553.1:p.Arg70=
NM_001308122.1:c.210_211delinsGC NP_001295051.1:p.Arg70=
NM_003060.3:c.210_211delinsGC NP_003051.1:p.Arg70=
XR_427718.1:n.479_480delinsGC
XR_948290.1:n.479_480delinsGC
XR_948291.1:n.479_480delinsGC
XM_011543590.2:c.-422_-421delinsGC XP_011541892.1:n.-422_-421delinsGC
XR_001742215.1:n.479_480delinsGC
XR_001742216.1:n.479_480delinsGC
XR_427718.2:n.479_480delinsGC
XR_948290.2:n.479_480delinsGC
XR_948291.2:n.479_480delinsGC
NM_003060.4:c.210_211delinsGC MANE Select NP_003051.1:p.Arg70=
NM_001308122.2:c.210_211delinsGC NP_001295051.1:p.Arg70=