Canonical Allele Identifier: CA16617748
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424584
ClinVar RCV Id: RCV000481131
dbSNP Id: rs1064797052
MyVariant Identifiers: chr2:g.71190764del (hg19) chr2:g.70963634del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70963634del , CM000664.2:g.70963634del GRCh38
NC_000002.11:g.71190764del , CM000664.1:g.71190764del GRCh37
NC_000002.10:g.71044272del NCBI36
NG_008016.1:g.32767del

Transcript Alleles

HGVS Amino-acid change
ENST00000234396.10:c.1123del (ATP6V1B1) MANE Select ENSP00000234396.4:p.Arg375AspfsTer21
ENST00000432367.6:c.1176del (VAX2)
ENST00000433895.2:c.13del (ATP6V1B1) ENSP00000407840.2:p.Arg5AspfsTer?
ENST00000646783.1:c.1159del (VAX2)
ENST00000234396.8:c.1123del (ATP6V1B1) ENSP00000234396.4:p.Arg375AspfsTer21
ENST00000412314.5:c.1072del (ATP6V1B1) ENSP00000388353.1:p.Arg358AspfsTer21
ENST00000432367.5:c.*401del (ATP6V1B1) ENSP00000405114.1:n.*401del
ENST00000433895.1:c.-105del (ATP6V1B1) ENSP00000407840.1:n.-105del
ENST00000453130.1:c.143-15259del
ENST00000606025.5:c.476-21201del ENSP00000475641.1:n.476-21201del
NM_001692.3:c.1123del (ATP6V1B1) NP_001683.2:p.Arg375AspfsTer21
XM_011532907.1:c.1243del (ATP6V1B1) XP_011531209.1:p.Arg415AspfsTer21
NM_001692.4:c.1123del (ATP6V1B1) MANE Select NP_001683.2:p.Arg375AspfsTer21
XM_011532907.2:c.1243del (ATP6V1B1) XP_011531209.1:p.Arg415AspfsTer21
Search 100 bp 5'
Search 100 bp 3'