Canonical Allele Identifier: CA1676923652
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160139877_160139878delinsTA , CM000668.2:g.160139877_160139878delinsTA GRCh38
NC_000006.11:g.160560909_160560910delinsTA , CM000668.1:g.160560909_160560910delinsTA GRCh37
NC_000006.10:g.160480899_160480900delinsTA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1276+10_1276+11delinsTA MANE Select ENSP00000355930.4:n.1276+10_1276+11delinsTA
ENST00000324965.8:c.1276+10_1276+11delinsTA ENSP00000318103.4:n.1276+10_1276+11delinsTA
ENST00000366963.8:c.1276+10_1276+11delinsTA ENSP00000355930.4:n.1276+10_1276+11delinsTA
ENST00000457470.6:c.1276+10_1276+11delinsTA ENSP00000409557.2:n.1276+10_1276+11delinsTA
ENST00000460902.2:c.1061+3227_1061+3228delinsTA ENSP00000439274.1:n.1061+3227_1061+3228delinsTA
ENST00000539263.5:c.*749+10_*749+11delinsTA ENSP00000443245.1:n.*749+10_*749+11delinsTA
NM_003057.2:c.1276+10_1276+11delinsTA NP_003048.1:n.1276+10_1276+11delinsTA
NM_153187.1:c.1276+10_1276+11delinsTA NP_694857.1:n.1276+10_1276+11delinsTA
XM_005267102.3:c.1276+10_1276+11delinsTA XP_005267159.1:n.1276+10_1276+11delinsTA
XM_005267103.1:c.1276+10_1276+11delinsTA XP_005267160.1:n.1276+10_1276+11delinsTA
XM_005267104.3:c.700+10_700+11delinsTA XP_005267161.1:n.700+10_700+11delinsTA
XM_005267105.3:c.700+10_700+11delinsTA XP_005267162.1:n.700+10_700+11delinsTA
XM_006715552.1:c.1276+10_1276+11delinsTA XP_006715615.1:n.1276+10_1276+11delinsTA
XM_011536074.1:c.700+10_700+11delinsTA XP_011534376.1:n.700+10_700+11delinsTA
XM_005267102.5:c.1276+10_1276+11delinsTA XP_005267159.1:n.1276+10_1276+11delinsTA
XM_005267103.2:c.1276+10_1276+11delinsTA XP_005267160.1:n.1276+10_1276+11delinsTA
XM_005267104.5:c.700+10_700+11delinsTA XP_005267161.1:n.700+10_700+11delinsTA
XM_005267105.5:c.700+10_700+11delinsTA XP_005267162.1:n.700+10_700+11delinsTA
XM_006715552.2:c.1276+10_1276+11delinsTA XP_006715615.1:n.1276+10_1276+11delinsTA
XM_011536074.3:c.700+10_700+11delinsTA XP_011534376.1:n.700+10_700+11delinsTA
NM_003057.3:c.1276+10_1276+11delinsTA MANE Select NP_003048.1:n.1276+10_1276+11delinsTA
NM_153187.2:c.1276+10_1276+11delinsTA NP_694857.1:n.1276+10_1276+11delinsTA