Canonical Allele Identifier: CA2781479961
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99835812_99835813insAG , CM000670.2:g.99835812_99835813insAG GRCh38
NC_000008.10:g.100848040_100848041insAG , CM000670.1:g.100848040_100848041insAG GRCh37
NC_000008.9:g.100917216_100917217insAG NCBI36
NG_007098.2:g.827547_827548insAG , LRG_351:g.827547_827548insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.10017+74_10017+75insAG ENSP00000507923.1:n.10017+74_10017+75insAG
ENST00000682358.1:n.10087+74_10087+75insAG
ENST00000683334.1:c.*5699+74_*5699+75insAG ENSP00000507369.1:n.*5699+74_*5699+75insAG
ENST00000357162.7:c.9942+74_9942+75insAG MANE Select ENSP00000349685.2:n.9942+74_9942+75insAG
ENST00000358544.7:c.10017+74_10017+75insAG MANE Plus Clinical ENSP00000351346.2:n.10017+74_10017+75insAG
ENST00000357162.6:c.9942+74_9942+75insAG ENSP00000349685.2:n.9942+74_9942+75insAG
ENST00000358544.6:c.10017+74_10017+75insAG ENSP00000351346.2:n.10017+74_10017+75insAG
NM_017890.4:c.10017+74_10017+75insAG , LRG_351t1:c.10017+74_10017+75insAG NP_060360.3:n.10017+74_10017+75insAG
NM_152564.4:c.9942+74_9942+75insAG , LRG_351t2:c.9942+74_9942+75insAG NP_689777.3:n.9942+74_9942+75insAG
XM_005250800.2:c.10017+74_10017+75insAG XP_005250857.1:n.10017+74_10017+75insAG
XM_005250801.3:c.10017+74_10017+75insAG XP_005250858.1:n.10017+74_10017+75insAG
XM_011516848.1:c.10014+74_10014+75insAG XP_011515150.1:n.10014+74_10014+75insAG
XM_011516849.1:c.9939+74_9939+75insAG XP_011515151.1:n.9939+74_9939+75insAG
XM_011516850.1:c.9639+74_9639+75insAG XP_011515152.1:n.9639+74_9639+75insAG
XM_011516851.1:c.6903+74_6903+75insAG XP_011515153.1:n.6903+74_6903+75insAG
XM_011516852.1:c.6903+74_6903+75insAG XP_011515154.1:n.6903+74_6903+75insAG
XM_011516854.1:c.5796+74_5796+75insAG XP_011515156.1:n.5796+74_5796+75insAG
XM_005250800.3:c.10017+74_10017+75insAG XP_005250857.1:n.10017+74_10017+75insAG
XM_005250801.5:c.10017+74_10017+75insAG XP_005250858.1:n.10017+74_10017+75insAG
XM_011516848.2:c.10014+74_10014+75insAG XP_011515150.1:n.10014+74_10014+75insAG
XM_011516849.2:c.9939+74_9939+75insAG XP_011515151.1:n.9939+74_9939+75insAG
XM_011516850.2:c.9639+74_9639+75insAG XP_011515152.1:n.9639+74_9639+75insAG
XM_011516851.2:c.6903+74_6903+75insAG XP_011515153.1:n.6903+74_6903+75insAG
XM_011516852.2:c.6903+74_6903+75insAG XP_011515154.1:n.6903+74_6903+75insAG
XM_011516854.2:c.5796+74_5796+75insAG XP_011515156.1:n.5796+74_5796+75insAG
XM_017013109.1:c.9822+74_9822+75insAG XP_016868598.1:n.9822+74_9822+75insAG
XM_017013111.1:c.6903+74_6903+75insAG XP_016868600.1:n.6903+74_6903+75insAG
XM_017013112.1:c.5574+74_5574+75insAG XP_016868601.1:n.5574+74_5574+75insAG
XM_024447074.1:c.8802+74_8802+75insAG XP_024302842.1:n.8802+74_8802+75insAG
NM_017890.5:c.10017+74_10017+75insAG MANE Plus Clinical NP_060360.3:n.10017+74_10017+75insAG
NM_152564.5:c.9942+74_9942+75insAG MANE Select NP_689777.3:n.9942+74_9942+75insAG