Canonical Allele Identifier: CA1676923528
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139664_160139666delinsCTG , CM000668.2:g.160139664_160139666delinsCTG GRCh38
NC_000006.11:g.160560696_160560698delinsCTG , CM000668.1:g.160560696_160560698delinsCTG GRCh37
NC_000006.10:g.160480686_160480688delinsCTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1073_1075delinsCTG MANE Select ENSP00000355930.4:p.Ser358=
ENST00000324965.8:c.1073_1075delinsCTG ENSP00000318103.4:p.Ser358=
ENST00000366963.8:c.1073_1075delinsCTG ENSP00000355930.4:p.Ser358=
ENST00000457470.6:c.1073_1075delinsCTG ENSP00000409557.2:p.Ser358=
ENST00000460902.2:c.1061+3014_1061+3016delinsCTG ENSP00000439274.1:n.1061+3014_1061+3016delinsCTG
ENST00000539263.5:c.*546_*548delinsCTG ENSP00000443245.1:n.*546_*548delinsCTG
NM_003057.2:c.1073_1075delinsCTG NP_003048.1:p.Ser358=
NM_153187.1:c.1073_1075delinsCTG NP_694857.1:p.Ser358=
XM_005267102.3:c.1073_1075delinsCTG XP_005267159.1:p.Ser358=
XM_005267103.1:c.1073_1075delinsCTG XP_005267160.1:p.Ser358=
XM_005267104.3:c.497_499delinsCTG XP_005267161.1:p.Ser166=
XM_005267105.3:c.497_499delinsCTG XP_005267162.1:p.Ser166=
XM_006715552.1:c.1073_1075delinsCTG XP_006715615.1:p.Ser358=
XM_011536074.1:c.497_499delinsCTG XP_011534376.1:p.Ser166=
XM_005267102.5:c.1073_1075delinsCTG XP_005267159.1:p.Ser358=
XM_005267103.2:c.1073_1075delinsCTG XP_005267160.1:p.Ser358=
XM_005267104.5:c.497_499delinsCTG XP_005267161.1:p.Ser166=
XM_005267105.5:c.497_499delinsCTG XP_005267162.1:p.Ser166=
XM_006715552.2:c.1073_1075delinsCTG XP_006715615.1:p.Ser358=
XM_011536074.3:c.497_499delinsCTG XP_011534376.1:p.Ser166=
NM_003057.3:c.1073_1075delinsCTG MANE Select NP_003048.1:p.Ser358=
NM_153187.2:c.1073_1075delinsCTG NP_694857.1:p.Ser358=