Canonical Allele Identifier: CA1586303518
Gene: SLC23A1 HGNC NCBI

Linked Data

dbSNP Id: rs1758133197

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379629_139379645del , CM000667.2:g.139379629_139379645del GRCh38
NC_000005.9:g.138715318_138715334del , CM000667.1:g.138715318_138715334del GRCh37
NC_000005.8:g.138743217_138743233del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.925+34_925+50del MANE Select ENSP00000302701.4:n.925+34_925+50del
ENST00000348729.7:c.925+34_925+50del ENSP00000302701.4:n.925+34_925+50del
ENST00000353963.7:c.937+34_937+50del ENSP00000302851.5:n.937+34_937+50del
ENST00000504513.1:c.165-290_165-274del
ENST00000506512.1:n.536+34_536+50del
NM_005847.4:c.925+34_925+50del NP_005838.3:n.925+34_925+50del
NM_152685.3:c.937+34_937+50del NP_689898.2:n.937+34_937+50del
XM_005272148.3:c.1045+34_1045+50del XP_005272205.3:n.1045+34_1045+50del
XM_005272149.3:c.1033+34_1033+50del XP_005272206.3:n.1033+34_1033+50del
XM_006714741.2:c.1045+34_1045+50del XP_006714804.2:n.1045+34_1045+50del
XM_011543765.1:c.1045+34_1045+50del XP_011542067.1:n.1045+34_1045+50del
XM_011543766.1:c.826+34_826+50del XP_011542068.1:n.826+34_826+50del
XM_011543767.1:c.730+34_730+50del XP_011542069.1:n.730+34_730+50del
XM_011543768.1:c.610+34_610+50del XP_011542070.1:n.610+34_610+50del
XM_011543769.1:c.220+34_220+50del XP_011542071.1:n.220+34_220+50del
XM_005272149.4:c.1033+34_1033+50del XP_005272206.3:n.1033+34_1033+50del
XM_011543765.2:c.1045+34_1045+50del XP_011542067.1:n.1045+34_1045+50del
NM_005847.5:c.925+34_925+50del MANE Select NP_005838.3:n.925+34_925+50del
NM_152685.4:c.937+34_937+50del NP_689898.2:n.937+34_937+50del