Canonical Allele Identifier: CA2688072597

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875556-C-CCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875559_99875561dup , CM000670.2:g.99875559_99875561dup	GRCh38
NC_000008.10:g.100887787_100887789dup , CM000670.1:g.100887787_100887789dup	GRCh37
NC_000008.9:g.100956963_100956965dup	NCBI36
NG_007098.2:g.867294_867296dup , LRG_351:g.867294_867296dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1616_*1618dup (VPS13B)	ENSP00000507923.1:n.*1616_*1618dup
ENST00000682358.1:n.12592_12594dup (VPS13B)
ENST00000683334.1:c.*7644_*7646dup (VPS13B)	ENSP00000507369.1:n.*7644_*7646dup
ENST00000357162.7:c.11887_11889dup (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3963_Thr3964insSer
ENST00000358544.7:c.11962_11964dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3988_Thr3989insSer
ENST00000357162.6:c.11887_11889dup (VPS13B)	ENSP00000349685.2:p.Ser3963_Thr3964insSer
ENST00000358544.6:c.11962_11964dup (VPS13B)	ENSP00000351346.2:p.Ser3988_Thr3989insSer
ENST00000493587.1:n.1464_1466dup (VPS13B)
ENST00000520517.5:c.*142-467_*142-465dup (COX6C)	ENSP00000429991.1:n.*142-467_*142-465dup
ENST00000522934.5:c.*142-2266_*142-2264dup (COX6C)	ENSP00000428702.1:n.*142-2266_*142-2264dup
NM_017890.4:c.11962_11964dup , LRG_351t1:c.11962_11964dup (VPS13B)	NP_060360.3:p.Ser3988_Thr3989insSer
NM_152564.4:c.11887_11889dup , LRG_351t2:c.11887_11889dup (VPS13B)	NP_689777.3:p.Ser3963_Thr3964insSer
XM_005250800.2:c.11962_11964dup (VPS13B)	XP_005250857.1:p.Ser3988_Thr3989insSer
XM_005250801.3:c.11962_11964dup (VPS13B)	XP_005250858.1:p.Ser3988_Thr3989insSer
XM_011516848.1:c.11959_11961dup (VPS13B)	XP_011515150.1:p.Ser3987_Thr3988insSer
XM_011516849.1:c.11884_11886dup (VPS13B)	XP_011515151.1:p.Ser3962_Thr3963insSer
XM_011516850.1:c.11584_11586dup (VPS13B)	XP_011515152.1:p.Ser3862_Thr3863insSer
XM_011516851.1:c.8848_8850dup (VPS13B)	XP_011515153.1:p.Ser2950_Thr2951insSer
XM_011516852.1:c.8848_8850dup (VPS13B)	XP_011515154.1:p.Ser2950_Thr2951insSer
XM_011516854.1:c.7741_7743dup (VPS13B)	XP_011515156.1:p.Ser2581_Thr2582insSer
XM_005250800.3:c.11962_11964dup (VPS13B)	XP_005250857.1:p.Ser3988_Thr3989insSer
XM_005250801.5:c.11962_11964dup (VPS13B)	XP_005250858.1:p.Ser3988_Thr3989insSer
XM_011516848.2:c.11959_11961dup (VPS13B)	XP_011515150.1:p.Ser3987_Thr3988insSer
XM_011516849.2:c.11884_11886dup (VPS13B)	XP_011515151.1:p.Ser3962_Thr3963insSer
XM_011516850.2:c.11584_11586dup (VPS13B)	XP_011515152.1:p.Ser3862_Thr3863insSer
XM_011516851.2:c.8848_8850dup (VPS13B)	XP_011515153.1:p.Ser2950_Thr2951insSer
XM_011516852.2:c.8848_8850dup (VPS13B)	XP_011515154.1:p.Ser2950_Thr2951insSer
XM_011516854.2:c.7741_7743dup (VPS13B)	XP_011515156.1:p.Ser2581_Thr2582insSer
XM_017013109.1:c.11767_11769dup (VPS13B)	XP_016868598.1:p.Ser3923_Thr3924insSer
XM_017013111.1:c.8848_8850dup (VPS13B)	XP_016868600.1:p.Ser2950_Thr2951insSer
XM_017013112.1:c.7519_7521dup (VPS13B)	XP_016868601.1:p.Ser2507_Thr2508insSer
XM_024447074.1:c.10747_10749dup (VPS13B)	XP_024302842.1:p.Ser3583_Thr3584insSer
NM_017890.5:c.11962_11964dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3988_Thr3989insSer
NM_152564.5:c.11887_11889dup (VPS13B) MANE Select	NP_689777.3:p.Ser3963_Thr3964insSer