Canonical Allele Identifier: CA2781481118

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99862000_99862001insAC , CM000670.2:g.99862000_99862001insAC	GRCh38
NC_000008.10:g.100874228_100874229insAC , CM000670.1:g.100874228_100874229insAC	GRCh37
NC_000008.9:g.100943404_100943405insAC	NCBI36
NG_007098.2:g.853735_853736insAC , LRG_351:g.853735_853736insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*384+54_*384+55insAC	ENSP00000507923.1:n.*384+54_*384+55insAC
ENST00000682358.1:n.11360+54_11360+55insAC
ENST00000683334.1:c.*6972+54_*6972+55insAC	ENSP00000507369.1:n.*6972+54_*6972+55insAC
ENST00000357162.7:c.11215+54_11215+55insAC MANE Select	ENSP00000349685.2:n.11215+54_11215+55insAC
ENST00000358544.7:c.11290+54_11290+55insAC MANE Plus Clinical	ENSP00000351346.2:n.11290+54_11290+55insAC
ENST00000357162.6:c.11215+54_11215+55insAC	ENSP00000349685.2:n.11215+54_11215+55insAC
ENST00000358544.6:c.11290+54_11290+55insAC	ENSP00000351346.2:n.11290+54_11290+55insAC
NM_017890.4:c.11290+54_11290+55insAC , LRG_351t1:c.11290+54_11290+55insAC	NP_060360.3:n.11290+54_11290+55insAC
NM_152564.4:c.11215+54_11215+55insAC , LRG_351t2:c.11215+54_11215+55insAC	NP_689777.3:n.11215+54_11215+55insAC
XM_005250800.2:c.11290+54_11290+55insAC	XP_005250857.1:n.11290+54_11290+55insAC
XM_005250801.3:c.11290+54_11290+55insAC	XP_005250858.1:n.11290+54_11290+55insAC
XM_011516848.1:c.11287+54_11287+55insAC	XP_011515150.1:n.11287+54_11287+55insAC
XM_011516849.1:c.11212+54_11212+55insAC	XP_011515151.1:n.11212+54_11212+55insAC
XM_011516850.1:c.10912+54_10912+55insAC	XP_011515152.1:n.10912+54_10912+55insAC
XM_011516851.1:c.8176+54_8176+55insAC	XP_011515153.1:n.8176+54_8176+55insAC
XM_011516852.1:c.8176+54_8176+55insAC	XP_011515154.1:n.8176+54_8176+55insAC
XM_011516854.1:c.7069+54_7069+55insAC	XP_011515156.1:n.7069+54_7069+55insAC
XM_005250800.3:c.11290+54_11290+55insAC	XP_005250857.1:n.11290+54_11290+55insAC
XM_005250801.5:c.11290+54_11290+55insAC	XP_005250858.1:n.11290+54_11290+55insAC
XM_011516848.2:c.11287+54_11287+55insAC	XP_011515150.1:n.11287+54_11287+55insAC
XM_011516849.2:c.11212+54_11212+55insAC	XP_011515151.1:n.11212+54_11212+55insAC
XM_011516850.2:c.10912+54_10912+55insAC	XP_011515152.1:n.10912+54_10912+55insAC
XM_011516851.2:c.8176+54_8176+55insAC	XP_011515153.1:n.8176+54_8176+55insAC
XM_011516852.2:c.8176+54_8176+55insAC	XP_011515154.1:n.8176+54_8176+55insAC
XM_011516854.2:c.7069+54_7069+55insAC	XP_011515156.1:n.7069+54_7069+55insAC
XM_017013109.1:c.11095+54_11095+55insAC	XP_016868598.1:n.11095+54_11095+55insAC
XM_017013111.1:c.8176+54_8176+55insAC	XP_016868600.1:n.8176+54_8176+55insAC
XM_017013112.1:c.6847+54_6847+55insAC	XP_016868601.1:n.6847+54_6847+55insAC
XM_024447074.1:c.10075+54_10075+55insAC	XP_024302842.1:n.10075+54_10075+55insAC
NM_017890.5:c.11290+54_11290+55insAC MANE Plus Clinical	NP_060360.3:n.11290+54_11290+55insAC
NM_152564.5:c.11215+54_11215+55insAC MANE Select	NP_689777.3:n.11215+54_11215+55insAC