Canonical Allele Identifier: CA2659504841

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958279-C-CCCCATTCCCTCCAGCAGGCCCCTTAGTGGAGGGAATGGGGCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958310_70958311insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG , CM000664.2:g.70958310_70958311insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG	GRCh38
NC_000002.11:g.71185440_71185441insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG , CM000664.1:g.71185440_71185441insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG	GRCh37
NC_000002.10:g.71038948_71038949insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG	NCBI36
NG_008016.1:g.27443_27444insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1) MANE Select	ENSP00000234396.4:n.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCA...
ENST00000432098.2:n.440-23_440-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)
ENST00000432367.6:c.478-23_478-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (VAX2)
ENST00000454446.6:c.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	ENSP00000408361.2:n.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCA...
ENST00000646783.1:c.310-23_310-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (VAX2)
ENST00000234396.8:c.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	ENSP00000234396.4:n.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCA...
ENST00000412314.5:c.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	ENSP00000388353.1:n.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCA...
ENST00000432098.1:c.-87-23_-87-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	ENSP00000387599.1:n.-87-23_-87-22insGGAATGGGGCTACCCATTCCCTCCA...
ENST00000432367.5:c.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	ENSP00000405114.1:n.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCA...
ENST00000453130.1:c.143-9905_143-9904insTAGCCCCATTCCCTCCACTAAGGGGCCTGCTGGAGGGAATGGG
ENST00000454446.5:c.325-23_325-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	ENSP00000408361.1:n.325-23_325-22insGGAATGGGGCTACCCATTCCCTCCA...
ENST00000463380.1:n.375-23_375-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)
ENST00000606025.5:c.476-15847_476-15846insTAGCCCCATTCCCTCCACTAAGGGGCCTGCTGGAGGGAATGGG	ENSP00000475641.1:n.476-15847_476-15846insTAGCCCCATTCCCTCCACT...
NM_001692.3:c.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	NP_001683.2:n.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGC...
XM_011532907.1:c.394-23_394-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	XP_011531209.1:n.394-23_394-22insGGAATGGGGCTACCCATTCCCTCCAGCA...
NM_001692.4:c.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1) MANE Select	NP_001683.2:n.274-23_274-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGC...
XM_011532907.2:c.394-23_394-22insGGAATGGGGCTACCCATTCCCTCCAGCAGGCCCCTTAGTGGAG (ATP6V1B1)	XP_011531209.1:n.394-23_394-22insGGAATGGGGCTACCCATTCCCTCCAGCA...