Canonical Allele Identifier: CA2579216518

Gene: VPS13B COX6C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875476_99875478dup , CM000670.2:g.99875476_99875478dup	GRCh38
NC_000008.10:g.100887704_100887706dup , CM000670.1:g.100887704_100887706dup	GRCh37
NC_000008.9:g.100956880_100956882dup	NCBI36
NG_007098.2:g.867211_867213dup , LRG_351:g.867211_867213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1533_*1535dup (VPS13B)	ENSP00000507923.1:n.*1533_*1535dup
ENST00000682358.1:n.12509_12511dup (VPS13B)
ENST00000683334.1:c.*7561_*7563dup (VPS13B)	ENSP00000507369.1:n.*7561_*7563dup
ENST00000357162.7:c.11804_11806dup (VPS13B) MANE Select	ENSP00000349685.2:p.Ile3935_Thr3936insIle
ENST00000358544.7:c.11879_11881dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ile3960_Thr3961insIle
ENST00000357162.6:c.11804_11806dup (VPS13B)	ENSP00000349685.2:p.Ile3935_Thr3936insIle
ENST00000358544.6:c.11879_11881dup (VPS13B)	ENSP00000351346.2:p.Ile3960_Thr3961insIle
ENST00000493587.1:n.1381_1383dup (VPS13B)
ENST00000520517.5:c.*142-384_*142-382dup (COX6C)	ENSP00000429991.1:n.*142-384_*142-382dup
ENST00000522934.5:c.*142-2183_*142-2181dup (COX6C)	ENSP00000428702.1:n.*142-2183_*142-2181dup
NM_017890.4:c.11879_11881dup , LRG_351t1:c.11879_11881dup (VPS13B)	NP_060360.3:p.Ile3960_Thr3961insIle
NM_152564.4:c.11804_11806dup , LRG_351t2:c.11804_11806dup (VPS13B)	NP_689777.3:p.Ile3935_Thr3936insIle
XM_005250800.2:c.11879_11881dup (VPS13B)	XP_005250857.1:p.Ile3960_Thr3961insIle
XM_005250801.3:c.11879_11881dup (VPS13B)	XP_005250858.1:p.Ile3960_Thr3961insIle
XM_011516848.1:c.11876_11878dup (VPS13B)	XP_011515150.1:p.Ile3959_Thr3960insIle
XM_011516849.1:c.11801_11803dup (VPS13B)	XP_011515151.1:p.Ile3934_Thr3935insIle
XM_011516850.1:c.11501_11503dup (VPS13B)	XP_011515152.1:p.Ile3834_Thr3835insIle
XM_011516851.1:c.8765_8767dup (VPS13B)	XP_011515153.1:p.Ile2922_Thr2923insIle
XM_011516852.1:c.8765_8767dup (VPS13B)	XP_011515154.1:p.Ile2922_Thr2923insIle
XM_011516854.1:c.7658_7660dup (VPS13B)	XP_011515156.1:p.Ile2553_Thr2554insIle
XM_005250800.3:c.11879_11881dup (VPS13B)	XP_005250857.1:p.Ile3960_Thr3961insIle
XM_005250801.5:c.11879_11881dup (VPS13B)	XP_005250858.1:p.Ile3960_Thr3961insIle
XM_011516848.2:c.11876_11878dup (VPS13B)	XP_011515150.1:p.Ile3959_Thr3960insIle
XM_011516849.2:c.11801_11803dup (VPS13B)	XP_011515151.1:p.Ile3934_Thr3935insIle
XM_011516850.2:c.11501_11503dup (VPS13B)	XP_011515152.1:p.Ile3834_Thr3835insIle
XM_011516851.2:c.8765_8767dup (VPS13B)	XP_011515153.1:p.Ile2922_Thr2923insIle
XM_011516852.2:c.8765_8767dup (VPS13B)	XP_011515154.1:p.Ile2922_Thr2923insIle
XM_011516854.2:c.7658_7660dup (VPS13B)	XP_011515156.1:p.Ile2553_Thr2554insIle
XM_017013109.1:c.11684_11686dup (VPS13B)	XP_016868598.1:p.Ile3895_Thr3896insIle
XM_017013111.1:c.8765_8767dup (VPS13B)	XP_016868600.1:p.Ile2922_Thr2923insIle
XM_017013112.1:c.7436_7438dup (VPS13B)	XP_016868601.1:p.Ile2479_Thr2480insIle
XM_024447074.1:c.10664_10666dup (VPS13B)	XP_024302842.1:p.Ile3555_Thr3556insIle
NM_017890.5:c.11879_11881dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ile3960_Thr3961insIle
NM_152564.5:c.11804_11806dup (VPS13B) MANE Select	NP_689777.3:p.Ile3935_Thr3936insIle