Canonical Allele Identifier: CA2030819671
Gene: SLC2A13 HGNC NCBI

Linked Data

dbSNP Id: rs1946155436

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.39947492_39947497del , CM000674.2:g.39947492_39947497del GRCh38
NC_000012.11:g.40341294_40341299del , CM000674.1:g.40341294_40341299del GRCh37
NC_000012.10:g.38627561_38627566del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000280871.9:c.1034+3762_1034+3767del MANE Select ENSP00000280871.4:n.1034+3762_1034+3767del
ENST00000280871.8:c.1034+3762_1034+3767del ENSP00000280871.4:n.1034+3762_1034+3767del
NM_052885.3:c.1034+3762_1034+3767del NP_443117.3:n.1034+3762_1034+3767del
XM_011537847.1:c.1034+3762_1034+3767del XP_011536149.1:n.1034+3762_1034+3767del
XM_011537848.1:c.1034+3762_1034+3767del XP_011536150.1:n.1034+3762_1034+3767del
XM_011537849.1:c.1034+3762_1034+3767del XP_011536151.1:n.1034+3762_1034+3767del
XM_011537850.1:c.1034+3762_1034+3767del XP_011536152.1:n.1034+3762_1034+3767del
XM_011537847.2:c.1034+3762_1034+3767del XP_011536149.1:n.1034+3762_1034+3767del
XM_011537849.2:c.1034+3762_1034+3767del XP_011536151.1:n.1034+3762_1034+3767del
XM_011537850.3:c.1034+3762_1034+3767del XP_011536152.1:n.1034+3762_1034+3767del
XM_017018764.1:c.467+3762_467+3767del XP_016874253.1:n.467+3762_467+3767del
XM_017018765.1:c.467+3762_467+3767del XP_016874254.1:n.467+3762_467+3767del
XM_017018766.1:c.314+3762_314+3767del XP_016874255.1:n.314+3762_314+3767del
XR_001748567.2:n.1311+3762_1311+3767del
XR_001748568.1:n.1311+3762_1311+3767del
NM_052885.4:c.1034+3762_1034+3767del MANE Select NP_443117.3:n.1034+3762_1034+3767del