Canonical Allele Identifier: CA1676923646
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139874_160139875delinsTG , CM000668.2:g.160139874_160139875delinsTG GRCh38
NC_000006.11:g.160560906_160560907delinsTG , CM000668.1:g.160560906_160560907delinsTG GRCh37
NC_000006.10:g.160480896_160480897delinsTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1276+7_1276+8delinsTG MANE Select ENSP00000355930.4:n.1276+7_1276+8delinsTG
ENST00000324965.8:c.1276+7_1276+8delinsTG ENSP00000318103.4:n.1276+7_1276+8delinsTG
ENST00000366963.8:c.1276+7_1276+8delinsTG ENSP00000355930.4:n.1276+7_1276+8delinsTG
ENST00000457470.6:c.1276+7_1276+8delinsTG ENSP00000409557.2:n.1276+7_1276+8delinsTG
ENST00000460902.2:c.1061+3224_1061+3225delinsTG ENSP00000439274.1:n.1061+3224_1061+3225delinsTG
ENST00000539263.5:c.*749+7_*749+8delinsTG ENSP00000443245.1:n.*749+7_*749+8delinsTG
NM_003057.2:c.1276+7_1276+8delinsTG NP_003048.1:n.1276+7_1276+8delinsTG
NM_153187.1:c.1276+7_1276+8delinsTG NP_694857.1:n.1276+7_1276+8delinsTG
XM_005267102.3:c.1276+7_1276+8delinsTG XP_005267159.1:n.1276+7_1276+8delinsTG
XM_005267103.1:c.1276+7_1276+8delinsTG XP_005267160.1:n.1276+7_1276+8delinsTG
XM_005267104.3:c.700+7_700+8delinsTG XP_005267161.1:n.700+7_700+8delinsTG
XM_005267105.3:c.700+7_700+8delinsTG XP_005267162.1:n.700+7_700+8delinsTG
XM_006715552.1:c.1276+7_1276+8delinsTG XP_006715615.1:n.1276+7_1276+8delinsTG
XM_011536074.1:c.700+7_700+8delinsTG XP_011534376.1:n.700+7_700+8delinsTG
XM_005267102.5:c.1276+7_1276+8delinsTG XP_005267159.1:n.1276+7_1276+8delinsTG
XM_005267103.2:c.1276+7_1276+8delinsTG XP_005267160.1:n.1276+7_1276+8delinsTG
XM_005267104.5:c.700+7_700+8delinsTG XP_005267161.1:n.700+7_700+8delinsTG
XM_005267105.5:c.700+7_700+8delinsTG XP_005267162.1:n.700+7_700+8delinsTG
XM_006715552.2:c.1276+7_1276+8delinsTG XP_006715615.1:n.1276+7_1276+8delinsTG
XM_011536074.3:c.700+7_700+8delinsTG XP_011534376.1:n.700+7_700+8delinsTG
NM_003057.3:c.1276+7_1276+8delinsTG MANE Select NP_003048.1:n.1276+7_1276+8delinsTG
NM_153187.2:c.1276+7_1276+8delinsTG NP_694857.1:n.1276+7_1276+8delinsTG