Canonical Allele Identifier: CA2688072211

Gene: VPS13B COX6C

Linked Data

• gnomAD v4: 8-99875400-ATTATTTTTGGATCCTAGGTAGATGGAGTCCGAGAGAGACTGTCAGAGCAACAGTACAACAGACTGGTGGACTACATCACAAAGACATCTTGTCACCTGGCCCCCAGCTGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99875401_99875511del , CM000670.2:g.99875401_99875511del	GRCh38
NC_000008.10:g.100887629_100887739del , CM000670.1:g.100887629_100887739del	GRCh37
NC_000008.9:g.100956805_100956915del	NCBI36
NG_007098.2:g.867136_867246del , LRG_351:g.867136_867246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1475-17_*1568del (VPS13B)
ENST00000682358.1:n.12451-17_12544del (VPS13B)
ENST00000683334.1:c.*7503-17_*7596del (VPS13B)
ENST00000357162.7:c.11746-17_11839del (VPS13B)
ENST00000358544.7:c.11821-17_11914del (VPS13B)
ENST00000357162.6:c.11746-17_11839del (VPS13B)
ENST00000358544.6:c.11821-17_11914del (VPS13B)
ENST00000493587.1:n.1323-17_1416del (VPS13B)
ENST00000520517.5:c.*142-419_*142-309del (COX6C)	ENSP00000429991.1:n.*142-419_*142-309del
ENST00000522934.5:c.*142-2218_*142-2108del (COX6C)	ENSP00000428702.1:n.*142-2218_*142-2108de...
NM_017890.4:c.11821-17_11914del , LRG_351t1:c.11821-17_11914del (VPS13B)
NM_152564.4:c.11746-17_11839del , LRG_351t2:c.11746-17_11839del (VPS13B)
XM_005250800.2:c.11821-17_11914del (VPS13B)
XM_005250801.3:c.11821-17_11914del (VPS13B)
XM_011516848.1:c.11818-17_11911del (VPS13B)
XM_011516849.1:c.11743-17_11836del (VPS13B)
XM_011516850.1:c.11443-17_11536del (VPS13B)
XM_011516851.1:c.8707-17_8800del (VPS13B)
XM_011516852.1:c.8707-17_8800del (VPS13B)
XM_011516854.1:c.7600-17_7693del (VPS13B)
XM_005250800.3:c.11821-17_11914del (VPS13B)
XM_005250801.5:c.11821-17_11914del (VPS13B)
XM_011516848.2:c.11818-17_11911del (VPS13B)
XM_011516849.2:c.11743-17_11836del (VPS13B)
XM_011516850.2:c.11443-17_11536del (VPS13B)
XM_011516851.2:c.8707-17_8800del (VPS13B)
XM_011516852.2:c.8707-17_8800del (VPS13B)
XM_011516854.2:c.7600-17_7693del (VPS13B)
XM_017013109.1:c.11626-17_11719del (VPS13B)
XM_017013111.1:c.8707-17_8800del (VPS13B)
XM_017013112.1:c.7378-17_7471del (VPS13B)
XM_024447074.1:c.10606-17_10699del (VPS13B)
NM_017890.5:c.11821-17_11914del (VPS13B)
NM_152564.5:c.11746-17_11839del (VPS13B)