Canonical Allele Identifier: CA1259810624
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958053_70958054delinsAG , CM000664.2:g.70958053_70958054delinsAG GRCh38
NC_000002.11:g.71185183_71185184delinsAG , CM000664.1:g.71185183_71185184delinsAG GRCh37
NC_000002.10:g.71038691_71038692delinsAG NCBI36
NG_008016.1:g.27186_27187delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000234396.10:c.182_183delinsAG (ATP6V1B1) MANE Select ENSP00000234396.4:p.Gln61=
ENST00000432098.2:n.348_349delinsAG (ATP6V1B1)
ENST00000432367.6:c.386_387delinsAG (VAX2)
ENST00000454446.6:c.182_183delinsAG (ATP6V1B1) ENSP00000408361.2:p.Gln61=
ENST00000646783.1:c.218_219delinsAG (VAX2)
ENST00000234396.8:c.182_183delinsAG (ATP6V1B1) ENSP00000234396.4:p.Gln61=
ENST00000412314.5:c.182_183delinsAG (ATP6V1B1) ENSP00000388353.1:p.Gln61=
ENST00000432098.1:c.-179_-178delinsAG (ATP6V1B1) ENSP00000387599.1:n.-179_-178delinsAG
ENST00000432367.5:c.182_183delinsAG (ATP6V1B1) ENSP00000405114.1:p.Gln61=
ENST00000453130.1:c.143-9679_143-9678delinsCT
ENST00000454446.5:c.233_234delinsAG (ATP6V1B1) ENSP00000408361.1:p.Gln78=
ENST00000463380.1:n.283_284delinsAG (ATP6V1B1)
ENST00000606025.5:c.476-15621_476-15620delinsCT ENSP00000475641.1:n.476-15621_476-15620delinsCT
NM_001692.3:c.182_183delinsAG (ATP6V1B1) NP_001683.2:p.Gln61=
XM_011532907.1:c.302_303delinsAG (ATP6V1B1) XP_011531209.1:p.Gln101=
NM_001692.4:c.182_183delinsAG (ATP6V1B1) MANE Select NP_001683.2:p.Gln61=
XM_011532907.2:c.302_303delinsAG (ATP6V1B1) XP_011531209.1:p.Gln101=