Canonical Allele Identifier: CA821603279
Gene: SLC22A1 HGNC NCBI

Linked Data

dbSNP Id: rs1349294037

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139877_160139884del , CM000668.2:g.160139877_160139884del GRCh38
NC_000006.11:g.160560909_160560916del , CM000668.1:g.160560909_160560916del GRCh37
NC_000006.10:g.160480899_160480906del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1276+10_1276+17del MANE Select ENSP00000355930.4:n.1276+10_1276+17del
ENST00000324965.8:c.1276+10_1276+17del ENSP00000318103.4:n.1276+10_1276+17del
ENST00000366963.8:c.1276+10_1276+17del ENSP00000355930.4:n.1276+10_1276+17del
ENST00000457470.6:c.1276+10_1276+17del ENSP00000409557.2:n.1276+10_1276+17del
ENST00000460902.2:c.1061+3227_1061+3234del ENSP00000439274.1:n.1061+3227_1061+3234del
ENST00000539263.5:c.*749+10_*749+17del ENSP00000443245.1:n.*749+10_*749+17del
NM_003057.2:c.1276+10_1276+17del NP_003048.1:n.1276+10_1276+17del
NM_153187.1:c.1276+10_1276+17del NP_694857.1:n.1276+10_1276+17del
XM_005267102.3:c.1276+10_1276+17del XP_005267159.1:n.1276+10_1276+17del
XM_005267103.1:c.1276+10_1276+17del XP_005267160.1:n.1276+10_1276+17del
XM_005267104.3:c.700+10_700+17del XP_005267161.1:n.700+10_700+17del
XM_005267105.3:c.700+10_700+17del XP_005267162.1:n.700+10_700+17del
XM_006715552.1:c.1276+10_1276+17del XP_006715615.1:n.1276+10_1276+17del
XM_011536074.1:c.700+10_700+17del XP_011534376.1:n.700+10_700+17del
XM_005267102.5:c.1276+10_1276+17del XP_005267159.1:n.1276+10_1276+17del
XM_005267103.2:c.1276+10_1276+17del XP_005267160.1:n.1276+10_1276+17del
XM_005267104.5:c.700+10_700+17del XP_005267161.1:n.700+10_700+17del
XM_005267105.5:c.700+10_700+17del XP_005267162.1:n.700+10_700+17del
XM_006715552.2:c.1276+10_1276+17del XP_006715615.1:n.1276+10_1276+17del
XM_011536074.3:c.700+10_700+17del XP_011534376.1:n.700+10_700+17del
NM_003057.3:c.1276+10_1276+17del MANE Select NP_003048.1:n.1276+10_1276+17del
NM_153187.2:c.1276+10_1276+17del NP_694857.1:n.1276+10_1276+17del