Canonical Allele Identifier: CA1676930365
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160155201_160155202delinsCT , CM000668.2:g.160155201_160155202delinsCT GRCh38
NC_000006.11:g.160576233_160576234delinsCT , CM000668.1:g.160576233_160576234delinsCT GRCh37
NC_000006.10:g.160496223_160496224delinsCT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1498+291_1498+292delinsCT MANE Select ENSP00000355930.4:n.1498+291_1498+292delinsCT
ENST00000324965.8:c.1386-774_1386-773delinsCT ENSP00000318103.4:n.1386-774_1386-773delinsCT
ENST00000366963.8:c.1498+291_1498+292delinsCT ENSP00000355930.4:n.1498+291_1498+292delinsCT
ENST00000457470.6:c.1386-3315_1386-3314delinsCT ENSP00000409557.2:n.1386-3315_1386-3314delinsCT
ENST00000460902.2:c.1283+291_1283+292delinsCT ENSP00000439274.1:n.1283+291_1283+292delinsCT
ENST00000539263.5:c.*971+291_*971+292delinsCT ENSP00000443245.1:n.*971+291_*971+292delinsCT
NM_003057.2:c.1498+291_1498+292delinsCT NP_003048.1:n.1498+291_1498+292delinsCT
NM_153187.1:c.1386-774_1386-773delinsCT NP_694857.1:n.1386-774_1386-773delinsCT
XM_005267102.3:c.1498+291_1498+292delinsCT XP_005267159.1:n.1498+291_1498+292delinsCT
XM_005267103.1:c.1499-229_1499-228delinsCT XP_005267160.1:n.1499-229_1499-228delinsCT
XM_005267104.3:c.922+291_922+292delinsCT XP_005267161.1:n.922+291_922+292delinsCT
XM_005267105.3:c.922+291_922+292delinsCT XP_005267162.1:n.922+291_922+292delinsCT
XM_006715552.1:c.1386-3315_1386-3314delinsCT XP_006715615.1:n.1386-3315_1386-3314delinsCT
XM_011536074.1:c.922+291_922+292delinsCT XP_011534376.1:n.922+291_922+292delinsCT
XM_005267102.5:c.1498+291_1498+292delinsCT XP_005267159.1:n.1498+291_1498+292delinsCT
XM_005267103.2:c.1499-229_1499-228delinsCT XP_005267160.1:n.1499-229_1499-228delinsCT
XM_005267104.5:c.922+291_922+292delinsCT XP_005267161.1:n.922+291_922+292delinsCT
XM_005267105.5:c.922+291_922+292delinsCT XP_005267162.1:n.922+291_922+292delinsCT
XM_006715552.2:c.1386-3315_1386-3314delinsCT XP_006715615.1:n.1386-3315_1386-3314delinsCT
XM_011536074.3:c.922+291_922+292delinsCT XP_011534376.1:n.922+291_922+292delinsCT
NM_003057.3:c.1498+291_1498+292delinsCT MANE Select NP_003048.1:n.1498+291_1498+292delinsCT
NM_153187.2:c.1386-774_1386-773delinsCT NP_694857.1:n.1386-774_1386-773delinsCT