Canonical Allele Identifier: CA2773789172
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139588_160139589insCTTT , CM000668.2:g.160139588_160139589insCTTT GRCh38
NC_000006.11:g.160560620_160560621insCTTT , CM000668.1:g.160560620_160560621insCTTT GRCh37
NC_000006.10:g.160480610_160480611insCTTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1062-65_1062-64insCTTT MANE Select ENSP00000355930.4:n.1062-65_1062-64insCTTT
ENST00000324965.8:c.1062-65_1062-64insCTTT ENSP00000318103.4:n.1062-65_1062-64insCTTT
ENST00000366963.8:c.1062-65_1062-64insCTTT ENSP00000355930.4:n.1062-65_1062-64insCTTT
ENST00000457470.6:c.1062-65_1062-64insCTTT ENSP00000409557.2:n.1062-65_1062-64insCTTT
ENST00000460902.2:c.1061+2938_1061+2939insCTTT ENSP00000439274.1:n.1061+2938_1061+2939insCTTT
ENST00000539263.5:c.*535-65_*535-64insCTTT ENSP00000443245.1:n.*535-65_*535-64insCTTT
NM_003057.2:c.1062-65_1062-64insCTTT NP_003048.1:n.1062-65_1062-64insCTTT
NM_153187.1:c.1062-65_1062-64insCTTT NP_694857.1:n.1062-65_1062-64insCTTT
XM_005267102.3:c.1062-65_1062-64insCTTT XP_005267159.1:n.1062-65_1062-64insCTTT
XM_005267103.1:c.1062-65_1062-64insCTTT XP_005267160.1:n.1062-65_1062-64insCTTT
XM_005267104.3:c.486-65_486-64insCTTT XP_005267161.1:n.486-65_486-64insCTTT
XM_005267105.3:c.486-65_486-64insCTTT XP_005267162.1:n.486-65_486-64insCTTT
XM_006715552.1:c.1062-65_1062-64insCTTT XP_006715615.1:n.1062-65_1062-64insCTTT
XM_011536074.1:c.486-65_486-64insCTTT XP_011534376.1:n.486-65_486-64insCTTT
XM_005267102.5:c.1062-65_1062-64insCTTT XP_005267159.1:n.1062-65_1062-64insCTTT
XM_005267103.2:c.1062-65_1062-64insCTTT XP_005267160.1:n.1062-65_1062-64insCTTT
XM_005267104.5:c.486-65_486-64insCTTT XP_005267161.1:n.486-65_486-64insCTTT
XM_005267105.5:c.486-65_486-64insCTTT XP_005267162.1:n.486-65_486-64insCTTT
XM_006715552.2:c.1062-65_1062-64insCTTT XP_006715615.1:n.1062-65_1062-64insCTTT
XM_011536074.3:c.486-65_486-64insCTTT XP_011534376.1:n.486-65_486-64insCTTT
NM_003057.3:c.1062-65_1062-64insCTTT MANE Select NP_003048.1:n.1062-65_1062-64insCTTT
NM_153187.2:c.1062-65_1062-64insCTTT NP_694857.1:n.1062-65_1062-64insCTTT