Canonical Allele Identifier: CA1087953538
Gene: TBC1D22B HGNC NCBI

Linked Data

gnomAD v3: 6-37311196-TAGG-T
gnomAD v4: 6-37311196-TAGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.37311197_37311199del , CM000668.2:g.37311197_37311199del GRCh38
NC_000006.11:g.37278973_37278975del , CM000668.1:g.37278973_37278975del GRCh37
NC_000006.10:g.37386951_37386953del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000373491.3:c.983-1721_983-1719del MANE Select ENSP00000362590.3:n.983-1721_983-1719del
NM_017772.3:c.983-1721_983-1719del NP_060242.2:n.983-1721_983-1719del
NR_130108.1:n.1258-1721_1258-1719del
XM_011514738.1:c.983-1721_983-1719del XP_011513040.1:n.983-1721_983-1719del
XM_011514739.1:c.983-1721_983-1719del XP_011513041.1:n.983-1721_983-1719del
XR_241906.1:n.1034-1721_1034-1719del
XR_427833.1:n.1149-1683_1149-1681del
XR_926270.1:n.1149-1683_1149-1681del
XM_011514738.3:c.983-1721_983-1719del XP_011513040.1:n.983-1721_983-1719del
XM_011514739.2:c.983-1721_983-1719del XP_011513041.1:n.983-1721_983-1719del
XR_241906.2:n.1014-1721_1014-1719del
XR_427833.2:n.1129-1683_1129-1681del
XR_926270.3:n.1129-1683_1129-1681del
NM_017772.4:c.983-1721_983-1719del MANE Select NP_060242.2:n.983-1721_983-1719del
NR_130108.2:n.1190-1721_1190-1719del
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