Canonical Allele Identifier: CA1676930357
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160155199_160155200delinsAC , CM000668.2:g.160155199_160155200delinsAC GRCh38
NC_000006.11:g.160576231_160576232delinsAC , CM000668.1:g.160576231_160576232delinsAC GRCh37
NC_000006.10:g.160496221_160496222delinsAC NCBI36

Transcript Alleles

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