Canonical Allele Identifier: CA2556813497
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160155196_160155197insCC , CM000668.2:g.160155196_160155197insCC GRCh38
NC_000006.11:g.160576228_160576229insCC , CM000668.1:g.160576228_160576229insCC GRCh37
NC_000006.10:g.160496218_160496219insCC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1498+286_1498+287insCC MANE Select ENSP00000355930.4:n.1498+286_1498+287insCC
ENST00000324965.8:c.1386-779_1386-778insCC ENSP00000318103.4:n.1386-779_1386-778insCC
ENST00000366963.8:c.1498+286_1498+287insCC ENSP00000355930.4:n.1498+286_1498+287insCC
ENST00000457470.6:c.1386-3320_1386-3319insCC ENSP00000409557.2:n.1386-3320_1386-3319insCC
ENST00000460902.2:c.1283+286_1283+287insCC ENSP00000439274.1:n.1283+286_1283+287insCC
ENST00000539263.5:c.*971+286_*971+287insCC ENSP00000443245.1:n.*971+286_*971+287insCC
NM_003057.2:c.1498+286_1498+287insCC NP_003048.1:n.1498+286_1498+287insCC
NM_153187.1:c.1386-779_1386-778insCC NP_694857.1:n.1386-779_1386-778insCC
XM_005267102.3:c.1498+286_1498+287insCC XP_005267159.1:n.1498+286_1498+287insCC
XM_005267103.1:c.1499-234_1499-233insCC XP_005267160.1:n.1499-234_1499-233insCC
XM_005267104.3:c.922+286_922+287insCC XP_005267161.1:n.922+286_922+287insCC
XM_005267105.3:c.922+286_922+287insCC XP_005267162.1:n.922+286_922+287insCC
XM_006715552.1:c.1386-3320_1386-3319insCC XP_006715615.1:n.1386-3320_1386-3319insCC
XM_011536074.1:c.922+286_922+287insCC XP_011534376.1:n.922+286_922+287insCC
XM_005267102.5:c.1498+286_1498+287insCC XP_005267159.1:n.1498+286_1498+287insCC
XM_005267103.2:c.1499-234_1499-233insCC XP_005267160.1:n.1499-234_1499-233insCC
XM_005267104.5:c.922+286_922+287insCC XP_005267161.1:n.922+286_922+287insCC
XM_005267105.5:c.922+286_922+287insCC XP_005267162.1:n.922+286_922+287insCC
XM_006715552.2:c.1386-3320_1386-3319insCC XP_006715615.1:n.1386-3320_1386-3319insCC
XM_011536074.3:c.922+286_922+287insCC XP_011534376.1:n.922+286_922+287insCC
NM_003057.3:c.1498+286_1498+287insCC MANE Select NP_003048.1:n.1498+286_1498+287insCC
NM_153187.2:c.1386-779_1386-778insCC NP_694857.1:n.1386-779_1386-778insCC