Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875767_99875768insACA , CM000670.2:g.99875767_99875768insACA	GRCh38
NC_000008.10:g.100887995_100887996insACA , CM000670.1:g.100887995_100887996insACA	GRCh37
NC_000008.9:g.100957171_100957172insACA	NCBI36
NG_007098.2:g.867502_867503insACA , LRG_351:g.867502_867503insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.1824_1825insACA (VPS13B)	ENSP00000507923.1:n.1824_1825insACA
ENST00000682358.1:n.12800_12801insACA (VPS13B)
ENST00000683334.1:c.7852_7853insACA (VPS13B)	ENSP00000507369.1:n.7852_7853insACA
ENST00000357162.7:c.101_102insACA (VPS13B) MANE Select	ENSP00000349685.2:n.101_102insACA
ENST00000358544.7:c.101_102insACA (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.101_102insACA
ENST00000357162.6:c.101_102insACA (VPS13B)	ENSP00000349685.2:n.101_102insACA
ENST00000358544.6:c.101_102insACA (VPS13B)	ENSP00000351346.2:n.101_102insACA
ENST00000493587.1:n.1672_1673insACA (VPS13B)
ENST00000520517.5:c.142-676_142-675insTGT (COX6C)	ENSP00000429991.1:n.142-676_142-675insTGT
ENST00000522934.5:c.141+2372_141+2373insTGT (COX6C)	ENSP00000428702.1:n.141+2372_141+2373insTGT
NM_017890.4:c.101_102insACA , LRG_351t1:c.101_102insACA (VPS13B)	NP_060360.3:n.101_102insACA
NM_152564.4:c.101_102insACA , LRG_351t2:c.101_102insACA (VPS13B)	NP_689777.3:n.101_102insACA
XM_005250800.2:c.101_102insACA (VPS13B)	XP_005250857.1:n.101_102insACA
XM_005250801.3:c.101_102insACA (VPS13B)	XP_005250858.1:n.101_102insACA
XM_011516848.1:c.101_102insACA (VPS13B)	XP_011515150.1:n.101_102insACA
XM_011516849.1:c.101_102insACA (VPS13B)	XP_011515151.1:n.101_102insACA
XM_011516850.1:c.101_102insACA (VPS13B)	XP_011515152.1:n.101_102insACA
XM_011516851.1:c.101_102insACA (VPS13B)	XP_011515153.1:n.101_102insACA
XM_011516852.1:c.101_102insACA (VPS13B)	XP_011515154.1:n.101_102insACA
XM_011516854.1:c.101_102insACA (VPS13B)	XP_011515156.1:n.101_102insACA
XM_005250800.3:c.101_102insACA (VPS13B)	XP_005250857.1:n.101_102insACA
XM_005250801.5:c.101_102insACA (VPS13B)	XP_005250858.1:n.101_102insACA
XM_011516848.2:c.101_102insACA (VPS13B)	XP_011515150.1:n.101_102insACA
XM_011516849.2:c.101_102insACA (VPS13B)	XP_011515151.1:n.101_102insACA
XM_011516850.2:c.101_102insACA (VPS13B)	XP_011515152.1:n.101_102insACA
XM_011516851.2:c.101_102insACA (VPS13B)	XP_011515153.1:n.101_102insACA
XM_011516852.2:c.101_102insACA (VPS13B)	XP_011515154.1:n.101_102insACA
XM_011516854.2:c.101_102insACA (VPS13B)	XP_011515156.1:n.101_102insACA
XM_017013109.1:c.101_102insACA (VPS13B)	XP_016868598.1:n.101_102insACA
XM_017013111.1:c.101_102insACA (VPS13B)	XP_016868600.1:n.101_102insACA
XM_017013112.1:c.101_102insACA (VPS13B)	XP_016868601.1:n.101_102insACA
XM_024447074.1:c.101_102insACA (VPS13B)	XP_024302842.1:n.101_102insACA
NM_017890.5:c.101_102insACA (VPS13B) MANE Plus Clinical	NP_060360.3:n.101_102insACA
NM_152564.5:c.101_102insACA (VPS13B) MANE Select	NP_689777.3:n.101_102insACA

HGVS	Amino-acid Change
ENST00000682153.1:c.1824_1825insACA (VPS13B)	ENSP00000507923.1:n.1824_1825insACA
ENST00000682358.1:n.12800_12801insACA (VPS13B)
ENST00000683334.1:c.7852_7853insACA (VPS13B)	ENSP00000507369.1:n.7852_7853insACA
ENST00000357162.7:c.101_102insACA (VPS13B) MANE Select	ENSP00000349685.2:n.101_102insACA
ENST00000358544.7:c.101_102insACA (VPS13B) MANE Plus Clinical	ENSP00000351346.2:n.101_102insACA
ENST00000357162.6:c.101_102insACA (VPS13B)	ENSP00000349685.2:n.101_102insACA
ENST00000358544.6:c.101_102insACA (VPS13B)	ENSP00000351346.2:n.101_102insACA
ENST00000493587.1:n.1672_1673insACA (VPS13B)
ENST00000520517.5:c.142-676_142-675insTGT (COX6C)	ENSP00000429991.1:n.142-676_142-675insTGT
ENST00000522934.5:c.141+2372_141+2373insTGT (COX6C)	ENSP00000428702.1:n.141+2372_141+2373insTGT
NM_017890.4:c.101_102insACA , LRG_351t1:c.101_102insACA (VPS13B)	NP_060360.3:n.101_102insACA
NM_152564.4:c.101_102insACA , LRG_351t2:c.101_102insACA (VPS13B)	NP_689777.3:n.101_102insACA
XM_005250800.2:c.101_102insACA (VPS13B)	XP_005250857.1:n.101_102insACA
XM_005250801.3:c.101_102insACA (VPS13B)	XP_005250858.1:n.101_102insACA
XM_011516848.1:c.101_102insACA (VPS13B)	XP_011515150.1:n.101_102insACA
XM_011516849.1:c.101_102insACA (VPS13B)	XP_011515151.1:n.101_102insACA
XM_011516850.1:c.101_102insACA (VPS13B)	XP_011515152.1:n.101_102insACA
XM_011516851.1:c.101_102insACA (VPS13B)	XP_011515153.1:n.101_102insACA
XM_011516852.1:c.101_102insACA (VPS13B)	XP_011515154.1:n.101_102insACA
XM_011516854.1:c.101_102insACA (VPS13B)	XP_011515156.1:n.101_102insACA
XM_005250800.3:c.101_102insACA (VPS13B)	XP_005250857.1:n.101_102insACA
XM_005250801.5:c.101_102insACA (VPS13B)	XP_005250858.1:n.101_102insACA
XM_011516848.2:c.101_102insACA (VPS13B)	XP_011515150.1:n.101_102insACA
XM_011516849.2:c.101_102insACA (VPS13B)	XP_011515151.1:n.101_102insACA
XM_011516850.2:c.101_102insACA (VPS13B)	XP_011515152.1:n.101_102insACA
XM_011516851.2:c.101_102insACA (VPS13B)	XP_011515153.1:n.101_102insACA
XM_011516852.2:c.101_102insACA (VPS13B)	XP_011515154.1:n.101_102insACA
XM_011516854.2:c.101_102insACA (VPS13B)	XP_011515156.1:n.101_102insACA
XM_017013109.1:c.101_102insACA (VPS13B)	XP_016868598.1:n.101_102insACA
XM_017013111.1:c.101_102insACA (VPS13B)	XP_016868600.1:n.101_102insACA
XM_017013112.1:c.101_102insACA (VPS13B)	XP_016868601.1:n.101_102insACA
XM_024447074.1:c.101_102insACA (VPS13B)	XP_024302842.1:n.101_102insACA
NM_017890.5:c.101_102insACA (VPS13B) MANE Plus Clinical	NP_060360.3:n.101_102insACA
NM_152564.5:c.101_102insACA (VPS13B) MANE Select	NP_689777.3:n.101_102insACA