Canonical Allele Identifier: CA2579216443

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868447_99868449dup , CM000670.2:g.99868447_99868449dup	GRCh38
NC_000008.10:g.100880675_100880677dup , CM000670.1:g.100880675_100880677dup	GRCh37
NC_000008.9:g.100949851_100949853dup	NCBI36
NG_007098.2:g.860182_860184dup , LRG_351:g.860182_860184dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*543_*545dup	ENSP00000507923.1:n.*543_*545dup
ENST00000682358.1:n.11519_11521dup
ENST00000683334.1:c.*7131_*7133dup	ENSP00000507369.1:n.*7131_*7133dup
ENST00000357162.7:c.11374_11376dup MANE Select	ENSP00000349685.2:p.Val3792_Ser3793insVal
ENST00000358544.7:c.11449_11451dup MANE Plus Clinical	ENSP00000351346.2:p.Val3817_Ser3818insVal
ENST00000357162.6:c.11374_11376dup	ENSP00000349685.2:p.Val3792_Ser3793insVal
ENST00000358544.6:c.11449_11451dup	ENSP00000351346.2:p.Val3817_Ser3818insVal
ENST00000493587.1:n.391_393dup
NM_017890.4:c.11449_11451dup , LRG_351t1:c.11449_11451dup	NP_060360.3:p.Val3817_Ser3818insVal
NM_152564.4:c.11374_11376dup , LRG_351t2:c.11374_11376dup	NP_689777.3:p.Val3792_Ser3793insVal
XM_005250800.2:c.11449_11451dup	XP_005250857.1:p.Val3817_Ser3818insVal
XM_005250801.3:c.11449_11451dup	XP_005250858.1:p.Val3817_Ser3818insVal
XM_011516848.1:c.11446_11448dup	XP_011515150.1:p.Val3816_Ser3817insVal
XM_011516849.1:c.11371_11373dup	XP_011515151.1:p.Val3791_Ser3792insVal
XM_011516850.1:c.11071_11073dup	XP_011515152.1:p.Val3691_Ser3692insVal
XM_011516851.1:c.8335_8337dup	XP_011515153.1:p.Val2779_Ser2780insVal
XM_011516852.1:c.8335_8337dup	XP_011515154.1:p.Val2779_Ser2780insVal
XM_011516854.1:c.7228_7230dup	XP_011515156.1:p.Val2410_Ser2411insVal
XM_005250800.3:c.11449_11451dup	XP_005250857.1:p.Val3817_Ser3818insVal
XM_005250801.5:c.11449_11451dup	XP_005250858.1:p.Val3817_Ser3818insVal
XM_011516848.2:c.11446_11448dup	XP_011515150.1:p.Val3816_Ser3817insVal
XM_011516849.2:c.11371_11373dup	XP_011515151.1:p.Val3791_Ser3792insVal
XM_011516850.2:c.11071_11073dup	XP_011515152.1:p.Val3691_Ser3692insVal
XM_011516851.2:c.8335_8337dup	XP_011515153.1:p.Val2779_Ser2780insVal
XM_011516852.2:c.8335_8337dup	XP_011515154.1:p.Val2779_Ser2780insVal
XM_011516854.2:c.7228_7230dup	XP_011515156.1:p.Val2410_Ser2411insVal
XM_017013109.1:c.11254_11256dup	XP_016868598.1:p.Val3752_Ser3753insVal
XM_017013111.1:c.8335_8337dup	XP_016868600.1:p.Val2779_Ser2780insVal
XM_017013112.1:c.7006_7008dup	XP_016868601.1:p.Val2336_Ser2337insVal
XM_024447074.1:c.10234_10236dup	XP_024302842.1:p.Val3412_Ser3413insVal
NM_017890.5:c.11449_11451dup MANE Plus Clinical	NP_060360.3:p.Val3817_Ser3818insVal
NM_152564.5:c.11374_11376dup MANE Select	NP_689777.3:p.Val3792_Ser3793insVal