Canonical Allele Identifier: CA2688072336

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875471-C-CTACA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875473_99875476dup , CM000670.2:g.99875473_99875476dup	GRCh38
NC_000008.10:g.100887701_100887704dup , CM000670.1:g.100887701_100887704dup	GRCh37
NC_000008.9:g.100956877_100956880dup	NCBI36
NG_007098.2:g.867208_867211dup , LRG_351:g.867208_867211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1530_*1533dup (VPS13B)	ENSP00000507923.1:n.*1530_*1533dup
ENST00000682358.1:n.12506_12509dup (VPS13B)
ENST00000683334.1:c.*7558_*7561dup (VPS13B)	ENSP00000507369.1:n.*7558_*7561dup
ENST00000357162.7:c.11801_11804dup (VPS13B) MANE Select	ENSP00000349685.2:p.Thr3936HisfsTer?
ENST00000358544.7:c.11876_11879dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Thr3961HisfsTer?
ENST00000357162.6:c.11801_11804dup (VPS13B)	ENSP00000349685.2:p.Thr3936HisfsTer?
ENST00000358544.6:c.11876_11879dup (VPS13B)	ENSP00000351346.2:p.Thr3961HisfsTer?
ENST00000493587.1:n.1378_1381dup (VPS13B)
ENST00000520517.5:c.*142-383_*142-380dup (COX6C)	ENSP00000429991.1:n.*142-383_*142-380dup
ENST00000522934.5:c.*142-2182_*142-2179dup (COX6C)	ENSP00000428702.1:n.*142-2182_*142-2179dup
NM_017890.4:c.11876_11879dup , LRG_351t1:c.11876_11879dup (VPS13B)	NP_060360.3:p.Thr3961HisfsTer?
NM_152564.4:c.11801_11804dup , LRG_351t2:c.11801_11804dup (VPS13B)	NP_689777.3:p.Thr3936HisfsTer?
XM_005250800.2:c.11876_11879dup (VPS13B)	XP_005250857.1:p.Thr3961HisfsTer?
XM_005250801.3:c.11876_11879dup (VPS13B)	XP_005250858.1:p.Thr3961HisfsTer?
XM_011516848.1:c.11873_11876dup (VPS13B)	XP_011515150.1:p.Thr3960HisfsTer?
XM_011516849.1:c.11798_11801dup (VPS13B)	XP_011515151.1:p.Thr3935HisfsTer?
XM_011516850.1:c.11498_11501dup (VPS13B)	XP_011515152.1:p.Thr3835HisfsTer?
XM_011516851.1:c.8762_8765dup (VPS13B)	XP_011515153.1:p.Thr2923HisfsTer?
XM_011516852.1:c.8762_8765dup (VPS13B)	XP_011515154.1:p.Thr2923HisfsTer?
XM_011516854.1:c.7655_7658dup (VPS13B)	XP_011515156.1:p.Thr2554HisfsTer?
XM_005250800.3:c.11876_11879dup (VPS13B)	XP_005250857.1:p.Thr3961HisfsTer?
XM_005250801.5:c.11876_11879dup (VPS13B)	XP_005250858.1:p.Thr3961HisfsTer?
XM_011516848.2:c.11873_11876dup (VPS13B)	XP_011515150.1:p.Thr3960HisfsTer?
XM_011516849.2:c.11798_11801dup (VPS13B)	XP_011515151.1:p.Thr3935HisfsTer?
XM_011516850.2:c.11498_11501dup (VPS13B)	XP_011515152.1:p.Thr3835HisfsTer?
XM_011516851.2:c.8762_8765dup (VPS13B)	XP_011515153.1:p.Thr2923HisfsTer?
XM_011516852.2:c.8762_8765dup (VPS13B)	XP_011515154.1:p.Thr2923HisfsTer?
XM_011516854.2:c.7655_7658dup (VPS13B)	XP_011515156.1:p.Thr2554HisfsTer?
XM_017013109.1:c.11681_11684dup (VPS13B)	XP_016868598.1:p.Thr3896HisfsTer?
XM_017013111.1:c.8762_8765dup (VPS13B)	XP_016868600.1:p.Thr2923HisfsTer?
XM_017013112.1:c.7433_7436dup (VPS13B)	XP_016868601.1:p.Thr2480HisfsTer?
XM_024447074.1:c.10661_10664dup (VPS13B)	XP_024302842.1:p.Thr3556HisfsTer?
NM_017890.5:c.11876_11879dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Thr3961HisfsTer?
NM_152564.5:c.11801_11804dup (VPS13B) MANE Select	NP_689777.3:p.Thr3936HisfsTer?