Canonical Allele Identifier: CA137482824

Gene: TBC1D22B

Linked Data

• dbSNP Id: rs11311446
• gnomAD v2: 6-37278959-ATT-A
• gnomAD v3: 6-37311183-ATT-A
• gnomAD v4: 6-37311183-ATT-A
• MyVariant Identifiers: chr6:g.37278960_37278961del (hg19) ; chr6:g.37311184_37311185del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37311195_37311196del , CM000668.2:g.37311195_37311196del	GRCh38
NC_000006.11:g.37278971_37278972del , CM000668.1:g.37278971_37278972del	GRCh37
NC_000006.10:g.37386949_37386950del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373491.3:c.983-1723_983-1722del MANE Select	ENSP00000362590.3:n.983-1723_983-1722del
NM_017772.3:c.983-1723_983-1722del	NP_060242.2:n.983-1723_983-1722del
NR_130108.1:n.1258-1723_1258-1722del
XM_011514738.1:c.983-1723_983-1722del	XP_011513040.1:n.983-1723_983-1722del
XM_011514739.1:c.983-1723_983-1722del	XP_011513041.1:n.983-1723_983-1722del
XR_241906.1:n.1034-1723_1034-1722del
XR_427833.1:n.1149-1685_1149-1684del
XR_926270.1:n.1149-1685_1149-1684del
XM_011514738.3:c.983-1723_983-1722del	XP_011513040.1:n.983-1723_983-1722del
XM_011514739.2:c.983-1723_983-1722del	XP_011513041.1:n.983-1723_983-1722del
XR_241906.2:n.1014-1723_1014-1722del
XR_427833.2:n.1129-1685_1129-1684del
XR_926270.3:n.1129-1685_1129-1684del
NM_017772.4:c.983-1723_983-1722del MANE Select	NP_060242.2:n.983-1723_983-1722del
NR_130108.2:n.1190-1723_1190-1722del