Canonical Allele Identifier: CA2688072163

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861910-CGACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861912_99861916del , CM000670.2:g.99861912_99861916del	GRCh38
NC_000008.10:g.100874140_100874144del , CM000670.1:g.100874140_100874144del	GRCh37
NC_000008.9:g.100943316_100943320del	NCBI36
NG_007098.2:g.853647_853651del , LRG_351:g.853647_853651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*350_*354del	ENSP00000507923.1:n.*350_*354del
ENST00000682358.1:n.11326_11330del
ENST00000683334.1:c.*6938_*6942del	ENSP00000507369.1:n.*6938_*6942del
ENST00000357162.7:c.11181_11185del MANE Select	ENSP00000349685.2:p.Gln3728ProfsTer17
ENST00000358544.7:c.11256_11260del MANE Plus Clinical	ENSP00000351346.2:p.Gln3753ProfsTer17
ENST00000357162.6:c.11181_11185del	ENSP00000349685.2:p.Gln3728ProfsTer17
ENST00000358544.6:c.11256_11260del	ENSP00000351346.2:p.Gln3753ProfsTer17
NM_017890.4:c.11256_11260del , LRG_351t1:c.11256_11260del	NP_060360.3:p.Gln3753ProfsTer17
NM_152564.4:c.11181_11185del , LRG_351t2:c.11181_11185del	NP_689777.3:p.Gln3728ProfsTer17
XM_005250800.2:c.11256_11260del	XP_005250857.1:p.Gln3753ProfsTer17
XM_005250801.3:c.11256_11260del	XP_005250858.1:p.Gln3753ProfsTer17
XM_011516848.1:c.11253_11257del	XP_011515150.1:p.Gln3752ProfsTer17
XM_011516849.1:c.11178_11182del	XP_011515151.1:p.Gln3727ProfsTer17
XM_011516850.1:c.10878_10882del	XP_011515152.1:p.Gln3627ProfsTer17
XM_011516851.1:c.8142_8146del	XP_011515153.1:p.Gln2715ProfsTer17
XM_011516852.1:c.8142_8146del	XP_011515154.1:p.Gln2715ProfsTer17
XM_011516854.1:c.7035_7039del	XP_011515156.1:p.Gln2346ProfsTer17
XM_005250800.3:c.11256_11260del	XP_005250857.1:p.Gln3753ProfsTer17
XM_005250801.5:c.11256_11260del	XP_005250858.1:p.Gln3753ProfsTer17
XM_011516848.2:c.11253_11257del	XP_011515150.1:p.Gln3752ProfsTer17
XM_011516849.2:c.11178_11182del	XP_011515151.1:p.Gln3727ProfsTer17
XM_011516850.2:c.10878_10882del	XP_011515152.1:p.Gln3627ProfsTer17
XM_011516851.2:c.8142_8146del	XP_011515153.1:p.Gln2715ProfsTer17
XM_011516852.2:c.8142_8146del	XP_011515154.1:p.Gln2715ProfsTer17
XM_011516854.2:c.7035_7039del	XP_011515156.1:p.Gln2346ProfsTer17
XM_017013109.1:c.11061_11065del	XP_016868598.1:p.Gln3688ProfsTer17
XM_017013111.1:c.8142_8146del	XP_016868600.1:p.Gln2715ProfsTer17
XM_017013112.1:c.6813_6817del	XP_016868601.1:p.Gln2272ProfsTer17
XM_024447074.1:c.10041_10045del	XP_024302842.1:p.Gln3348ProfsTer17
NM_017890.5:c.11256_11260del MANE Plus Clinical	NP_060360.3:p.Gln3753ProfsTer17
NM_152564.5:c.11181_11185del MANE Select	NP_689777.3:p.Gln3728ProfsTer17