Canonical Allele Identifier: CA2688072419

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875497-T-TGGCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875499_99875506dup , CM000670.2:g.99875499_99875506dup	GRCh38
NC_000008.10:g.100887727_100887734dup , CM000670.1:g.100887727_100887734dup	GRCh37
NC_000008.9:g.100956903_100956910dup	NCBI36
NG_007098.2:g.867234_867241dup , LRG_351:g.867234_867241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*1556_*1563dup (VPS13B)	ENSP00000507923.1:n.*1556_*1563dup
ENST00000682358.1:n.12532_12539dup (VPS13B)
ENST00000683334.1:c.*7584_*7591dup (VPS13B)	ENSP00000507369.1:n.*7584_*7591dup
ENST00000357162.7:c.11827_11834dup (VPS13B) MANE Select	ENSP00000349685.2:p.Ser3945ArgfsTer?
ENST00000358544.7:c.11902_11909dup (VPS13B) MANE Plus Clinical	ENSP00000351346.2:p.Ser3970ArgfsTer?
ENST00000357162.6:c.11827_11834dup (VPS13B)	ENSP00000349685.2:p.Ser3945ArgfsTer?
ENST00000358544.6:c.11902_11909dup (VPS13B)	ENSP00000351346.2:p.Ser3970ArgfsTer?
ENST00000493587.1:n.1404_1411dup (VPS13B)
ENST00000520517.5:c.*142-413_*142-406dup (COX6C)	ENSP00000429991.1:n.*142-413_*142-406dup
ENST00000522934.5:c.*142-2212_*142-2205dup (COX6C)	ENSP00000428702.1:n.*142-2212_*142-2205dup
NM_017890.4:c.11902_11909dup , LRG_351t1:c.11902_11909dup (VPS13B)	NP_060360.3:p.Ser3970ArgfsTer?
NM_152564.4:c.11827_11834dup , LRG_351t2:c.11827_11834dup (VPS13B)	NP_689777.3:p.Ser3945ArgfsTer?
XM_005250800.2:c.11902_11909dup (VPS13B)	XP_005250857.1:p.Ser3970ArgfsTer?
XM_005250801.3:c.11902_11909dup (VPS13B)	XP_005250858.1:p.Ser3970ArgfsTer?
XM_011516848.1:c.11899_11906dup (VPS13B)	XP_011515150.1:p.Ser3969ArgfsTer?
XM_011516849.1:c.11824_11831dup (VPS13B)	XP_011515151.1:p.Ser3944ArgfsTer?
XM_011516850.1:c.11524_11531dup (VPS13B)	XP_011515152.1:p.Ser3844ArgfsTer?
XM_011516851.1:c.8788_8795dup (VPS13B)	XP_011515153.1:p.Ser2932ArgfsTer?
XM_011516852.1:c.8788_8795dup (VPS13B)	XP_011515154.1:p.Ser2932ArgfsTer?
XM_011516854.1:c.7681_7688dup (VPS13B)	XP_011515156.1:p.Ser2563ArgfsTer?
XM_005250800.3:c.11902_11909dup (VPS13B)	XP_005250857.1:p.Ser3970ArgfsTer?
XM_005250801.5:c.11902_11909dup (VPS13B)	XP_005250858.1:p.Ser3970ArgfsTer?
XM_011516848.2:c.11899_11906dup (VPS13B)	XP_011515150.1:p.Ser3969ArgfsTer?
XM_011516849.2:c.11824_11831dup (VPS13B)	XP_011515151.1:p.Ser3944ArgfsTer?
XM_011516850.2:c.11524_11531dup (VPS13B)	XP_011515152.1:p.Ser3844ArgfsTer?
XM_011516851.2:c.8788_8795dup (VPS13B)	XP_011515153.1:p.Ser2932ArgfsTer?
XM_011516852.2:c.8788_8795dup (VPS13B)	XP_011515154.1:p.Ser2932ArgfsTer?
XM_011516854.2:c.7681_7688dup (VPS13B)	XP_011515156.1:p.Ser2563ArgfsTer?
XM_017013109.1:c.11707_11714dup (VPS13B)	XP_016868598.1:p.Ser3905ArgfsTer?
XM_017013111.1:c.8788_8795dup (VPS13B)	XP_016868600.1:p.Ser2932ArgfsTer?
XM_017013112.1:c.7459_7466dup (VPS13B)	XP_016868601.1:p.Ser2489ArgfsTer?
XM_024447074.1:c.10687_10694dup (VPS13B)	XP_024302842.1:p.Ser3565ArgfsTer?
NM_017890.5:c.11902_11909dup (VPS13B) MANE Plus Clinical	NP_060360.3:p.Ser3970ArgfsTer?
NM_152564.5:c.11827_11834dup (VPS13B) MANE Select	NP_689777.3:p.Ser3945ArgfsTer?