Canonical Allele Identifier: CA2773789067
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139498_160139499del , CM000668.2:g.160139498_160139499del GRCh38
NC_000006.11:g.160560530_160560531del , CM000668.1:g.160560530_160560531del GRCh37
NC_000006.10:g.160480520_160480521del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1062-155_1062-154del MANE Select ENSP00000355930.4:n.1062-155_1062-154del
ENST00000324965.8:c.1062-155_1062-154del ENSP00000318103.4:n.1062-155_1062-154del
ENST00000366963.8:c.1062-155_1062-154del ENSP00000355930.4:n.1062-155_1062-154del
ENST00000457470.6:c.1062-155_1062-154del ENSP00000409557.2:n.1062-155_1062-154del
ENST00000460902.2:c.1061+2848_1061+2849del ENSP00000439274.1:n.1061+2848_1061+2849del
ENST00000539263.5:c.*535-155_*535-154del ENSP00000443245.1:n.*535-155_*535-154del
NM_003057.2:c.1062-155_1062-154del NP_003048.1:n.1062-155_1062-154del
NM_153187.1:c.1062-155_1062-154del NP_694857.1:n.1062-155_1062-154del
XM_005267102.3:c.1062-155_1062-154del XP_005267159.1:n.1062-155_1062-154del
XM_005267103.1:c.1062-155_1062-154del XP_005267160.1:n.1062-155_1062-154del
XM_005267104.3:c.486-155_486-154del XP_005267161.1:n.486-155_486-154del
XM_005267105.3:c.486-155_486-154del XP_005267162.1:n.486-155_486-154del
XM_006715552.1:c.1062-155_1062-154del XP_006715615.1:n.1062-155_1062-154del
XM_011536074.1:c.486-155_486-154del XP_011534376.1:n.486-155_486-154del
XM_005267102.5:c.1062-155_1062-154del XP_005267159.1:n.1062-155_1062-154del
XM_005267103.2:c.1062-155_1062-154del XP_005267160.1:n.1062-155_1062-154del
XM_005267104.5:c.486-155_486-154del XP_005267161.1:n.486-155_486-154del
XM_005267105.5:c.486-155_486-154del XP_005267162.1:n.486-155_486-154del
XM_006715552.2:c.1062-155_1062-154del XP_006715615.1:n.1062-155_1062-154del
XM_011536074.3:c.486-155_486-154del XP_011534376.1:n.486-155_486-154del
NM_003057.3:c.1062-155_1062-154del MANE Select NP_003048.1:n.1062-155_1062-154del
NM_153187.2:c.1062-155_1062-154del NP_694857.1:n.1062-155_1062-154del