Canonical Allele Identifier: CA1676930359
Gene: SLC22A1 HGNC NCBI

Linked Data

dbSNP Id: rs1781617976

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160155199_160155200insT , CM000668.2:g.160155199_160155200insT GRCh38
NC_000006.11:g.160576231_160576232insT , CM000668.1:g.160576231_160576232insT GRCh37
NC_000006.10:g.160496221_160496222insT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1498+289_1498+290insT MANE Select ENSP00000355930.4:n.1498+289_1498+290insT
ENST00000324965.8:c.1386-776_1386-775insT ENSP00000318103.4:n.1386-776_1386-775insT
ENST00000366963.8:c.1498+289_1498+290insT ENSP00000355930.4:n.1498+289_1498+290insT
ENST00000457470.6:c.1386-3317_1386-3316insT ENSP00000409557.2:n.1386-3317_1386-3316insT
ENST00000460902.2:c.1283+289_1283+290insT ENSP00000439274.1:n.1283+289_1283+290insT
ENST00000539263.5:c.*971+289_*971+290insT ENSP00000443245.1:n.*971+289_*971+290insT
NM_003057.2:c.1498+289_1498+290insT NP_003048.1:n.1498+289_1498+290insT
NM_153187.1:c.1386-776_1386-775insT NP_694857.1:n.1386-776_1386-775insT
XM_005267102.3:c.1498+289_1498+290insT XP_005267159.1:n.1498+289_1498+290insT
XM_005267103.1:c.1499-231_1499-230insT XP_005267160.1:n.1499-231_1499-230insT
XM_005267104.3:c.922+289_922+290insT XP_005267161.1:n.922+289_922+290insT
XM_005267105.3:c.922+289_922+290insT XP_005267162.1:n.922+289_922+290insT
XM_006715552.1:c.1386-3317_1386-3316insT XP_006715615.1:n.1386-3317_1386-3316insT
XM_011536074.1:c.922+289_922+290insT XP_011534376.1:n.922+289_922+290insT
XM_005267102.5:c.1498+289_1498+290insT XP_005267159.1:n.1498+289_1498+290insT
XM_005267103.2:c.1499-231_1499-230insT XP_005267160.1:n.1499-231_1499-230insT
XM_005267104.5:c.922+289_922+290insT XP_005267161.1:n.922+289_922+290insT
XM_005267105.5:c.922+289_922+290insT XP_005267162.1:n.922+289_922+290insT
XM_006715552.2:c.1386-3317_1386-3316insT XP_006715615.1:n.1386-3317_1386-3316insT
XM_011536074.3:c.922+289_922+290insT XP_011534376.1:n.922+289_922+290insT
NM_003057.3:c.1498+289_1498+290insT MANE Select NP_003048.1:n.1498+289_1498+290insT
NM_153187.2:c.1386-776_1386-775insT NP_694857.1:n.1386-776_1386-775insT