Canonical Allele Identifier: CA1676923588
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139795_160139796delinsCG , CM000668.2:g.160139795_160139796delinsCG GRCh38
NC_000006.11:g.160560827_160560828delinsCG , CM000668.1:g.160560827_160560828delinsCG GRCh37
NC_000006.10:g.160480817_160480818delinsCG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1204_1205delinsCG MANE Select ENSP00000355930.4:p.Arg402=
ENST00000324965.8:c.1204_1205delinsCG ENSP00000318103.4:p.Arg402=
ENST00000366963.8:c.1204_1205delinsCG ENSP00000355930.4:p.Arg402=
ENST00000457470.6:c.1204_1205delinsCG ENSP00000409557.2:p.Arg402=
ENST00000460902.2:c.1061+3145_1061+3146delinsCG ENSP00000439274.1:n.1061+3145_1061+3146delinsCG
ENST00000539263.5:c.*677_*678delinsCG ENSP00000443245.1:n.*677_*678delinsCG
NM_003057.2:c.1204_1205delinsCG NP_003048.1:p.Arg402=
NM_153187.1:c.1204_1205delinsCG NP_694857.1:p.Arg402=
XM_005267102.3:c.1204_1205delinsCG XP_005267159.1:p.Arg402=
XM_005267103.1:c.1204_1205delinsCG XP_005267160.1:p.Arg402=
XM_005267104.3:c.628_629delinsCG XP_005267161.1:p.Arg210=
XM_005267105.3:c.628_629delinsCG XP_005267162.1:p.Arg210=
XM_006715552.1:c.1204_1205delinsCG XP_006715615.1:p.Arg402=
XM_011536074.1:c.628_629delinsCG XP_011534376.1:p.Arg210=
XM_005267102.5:c.1204_1205delinsCG XP_005267159.1:p.Arg402=
XM_005267103.2:c.1204_1205delinsCG XP_005267160.1:p.Arg402=
XM_005267104.5:c.628_629delinsCG XP_005267161.1:p.Arg210=
XM_005267105.5:c.628_629delinsCG XP_005267162.1:p.Arg210=
XM_006715552.2:c.1204_1205delinsCG XP_006715615.1:p.Arg402=
XM_011536074.3:c.628_629delinsCG XP_011534376.1:p.Arg210=
NM_003057.3:c.1204_1205delinsCG MANE Select NP_003048.1:p.Arg402=
NM_153187.2:c.1204_1205delinsCG NP_694857.1:p.Arg402=