Canonical Allele Identifier: CA1087953518
Gene: TBC1D22B HGNC NCBI

Linked Data

gnomAD v3: 6-37311183-ATTTT-A
gnomAD v4: 6-37311183-ATTTT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.37311193_37311196del , CM000668.2:g.37311193_37311196del GRCh38
NC_000006.11:g.37278969_37278972del , CM000668.1:g.37278969_37278972del GRCh37
NC_000006.10:g.37386947_37386950del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000373491.3:c.983-1725_983-1722del MANE Select ENSP00000362590.3:n.983-1725_983-1722del
NM_017772.3:c.983-1725_983-1722del NP_060242.2:n.983-1725_983-1722del
NR_130108.1:n.1258-1725_1258-1722del
XM_011514738.1:c.983-1725_983-1722del XP_011513040.1:n.983-1725_983-1722del
XM_011514739.1:c.983-1725_983-1722del XP_011513041.1:n.983-1725_983-1722del
XR_241906.1:n.1034-1725_1034-1722del
XR_427833.1:n.1149-1687_1149-1684del
XR_926270.1:n.1149-1687_1149-1684del
XM_011514738.3:c.983-1725_983-1722del XP_011513040.1:n.983-1725_983-1722del
XM_011514739.2:c.983-1725_983-1722del XP_011513041.1:n.983-1725_983-1722del
XR_241906.2:n.1014-1725_1014-1722del
XR_427833.2:n.1129-1687_1129-1684del
XR_926270.3:n.1129-1687_1129-1684del
NM_017772.4:c.983-1725_983-1722del MANE Select NP_060242.2:n.983-1725_983-1722del
NR_130108.2:n.1190-1725_1190-1722del
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