Canonical Allele Identifier: CA2773789080
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139579_160139580insTTT , CM000668.2:g.160139579_160139580insTTT GRCh38
NC_000006.11:g.160560611_160560612insTTT , CM000668.1:g.160560611_160560612insTTT GRCh37
NC_000006.10:g.160480601_160480602insTTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1062-74_1062-73insTTT MANE Select ENSP00000355930.4:n.1062-74_1062-73insTTT
ENST00000324965.8:c.1062-74_1062-73insTTT ENSP00000318103.4:n.1062-74_1062-73insTTT
ENST00000366963.8:c.1062-74_1062-73insTTT ENSP00000355930.4:n.1062-74_1062-73insTTT
ENST00000457470.6:c.1062-74_1062-73insTTT ENSP00000409557.2:n.1062-74_1062-73insTTT
ENST00000460902.2:c.1061+2929_1061+2930insTTT ENSP00000439274.1:n.1061+2929_1061+2930insTTT
ENST00000539263.5:c.*535-74_*535-73insTTT ENSP00000443245.1:n.*535-74_*535-73insTTT
NM_003057.2:c.1062-74_1062-73insTTT NP_003048.1:n.1062-74_1062-73insTTT
NM_153187.1:c.1062-74_1062-73insTTT NP_694857.1:n.1062-74_1062-73insTTT
XM_005267102.3:c.1062-74_1062-73insTTT XP_005267159.1:n.1062-74_1062-73insTTT
XM_005267103.1:c.1062-74_1062-73insTTT XP_005267160.1:n.1062-74_1062-73insTTT
XM_005267104.3:c.486-74_486-73insTTT XP_005267161.1:n.486-74_486-73insTTT
XM_005267105.3:c.486-74_486-73insTTT XP_005267162.1:n.486-74_486-73insTTT
XM_006715552.1:c.1062-74_1062-73insTTT XP_006715615.1:n.1062-74_1062-73insTTT
XM_011536074.1:c.486-74_486-73insTTT XP_011534376.1:n.486-74_486-73insTTT
XM_005267102.5:c.1062-74_1062-73insTTT XP_005267159.1:n.1062-74_1062-73insTTT
XM_005267103.2:c.1062-74_1062-73insTTT XP_005267160.1:n.1062-74_1062-73insTTT
XM_005267104.5:c.486-74_486-73insTTT XP_005267161.1:n.486-74_486-73insTTT
XM_005267105.5:c.486-74_486-73insTTT XP_005267162.1:n.486-74_486-73insTTT
XM_006715552.2:c.1062-74_1062-73insTTT XP_006715615.1:n.1062-74_1062-73insTTT
XM_011536074.3:c.486-74_486-73insTTT XP_011534376.1:n.486-74_486-73insTTT
NM_003057.3:c.1062-74_1062-73insTTT MANE Select NP_003048.1:n.1062-74_1062-73insTTT
NM_153187.2:c.1062-74_1062-73insTTT NP_694857.1:n.1062-74_1062-73insTTT