Canonical Allele Identifier: CA2533868301
Gene: SLC23A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379671_139379672insTTACTTA , CM000667.2:g.139379671_139379672insTTACTTA GRCh38
NC_000005.9:g.138715360_138715361insTTACTTA , CM000667.1:g.138715360_138715361insTTACTTA GRCh37
NC_000005.8:g.138743259_138743260insTTACTTA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.925+6_925+7insTAAGTAA MANE Select ENSP00000302701.4:n.925+6_925+7insTAAGTAA
ENST00000348729.7:c.925+6_925+7insTAAGTAA ENSP00000302701.4:n.925+6_925+7insTAAGTAA
ENST00000353963.7:c.937+6_937+7insTAAGTAA ENSP00000302851.5:n.937+6_937+7insTAAGTAA
ENST00000504513.1:c.164+284_164+285insTAAGTAA
ENST00000506512.1:n.536+6_536+7insTAAGTAA
NM_005847.4:c.925+6_925+7insTAAGTAA NP_005838.3:n.925+6_925+7insTAAGTAA
NM_152685.3:c.937+6_937+7insTAAGTAA NP_689898.2:n.937+6_937+7insTAAGTAA
XM_005272148.3:c.1045+6_1045+7insTAAGTAA XP_005272205.3:n.1045+6_1045+7insTAAGTAA
XM_005272149.3:c.1033+6_1033+7insTAAGTAA XP_005272206.3:n.1033+6_1033+7insTAAGTAA
XM_006714741.2:c.1045+6_1045+7insTAAGTAA XP_006714804.2:n.1045+6_1045+7insTAAGTAA
XM_011543765.1:c.1045+6_1045+7insTAAGTAA XP_011542067.1:n.1045+6_1045+7insTAAGTAA
XM_011543766.1:c.826+6_826+7insTAAGTAA XP_011542068.1:n.826+6_826+7insTAAGTAA
XM_011543767.1:c.730+6_730+7insTAAGTAA XP_011542069.1:n.730+6_730+7insTAAGTAA
XM_011543768.1:c.610+6_610+7insTAAGTAA XP_011542070.1:n.610+6_610+7insTAAGTAA
XM_011543769.1:c.220+6_220+7insTAAGTAA XP_011542071.1:n.220+6_220+7insTAAGTAA
XM_005272149.4:c.1033+6_1033+7insTAAGTAA XP_005272206.3:n.1033+6_1033+7insTAAGTAA
XM_011543765.2:c.1045+6_1045+7insTAAGTAA XP_011542067.1:n.1045+6_1045+7insTAAGTAA
NM_005847.5:c.925+6_925+7insTAAGTAA MANE Select NP_005838.3:n.925+6_925+7insTAAGTAA
NM_152685.4:c.937+6_937+7insTAAGTAA NP_689898.2:n.937+6_937+7insTAAGTAA