Canonical Allele Identifier: CA917993354
Gene: BLVRA HGNC NCBI

Linked Data

dbSNP Id: rs1563545427

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43788103del , CM000669.2:g.43788103del GRCh38
NC_000007.13:g.43827702del , CM000669.1:g.43827702del GRCh37
NC_000007.12:g.43794227del NCBI36
NG_031876.1:g.34431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265523.9:c.134+78del MANE Select ENSP00000265523.4:n.134+78del
ENST00000265523.8:c.134+78del ENSP00000265523.4:n.134+78del
ENST00000402924.5:c.134+78del ENSP00000385757.1:n.134+78del
ENST00000424330.1:c.134+78del ENSP00000412005.1:n.134+78del
ENST00000453612.1:n.158+78del
NM_000712.3:c.134+78del NP_000703.2:n.134+78del
NM_001253823.1:c.134+78del NP_001240752.1:n.134+78del
XM_011515474.1:c.134+78del XP_011513776.1:n.134+78del
XR_428136.2:n.265-2342del
XR_927212.1:n.265-2342del
XR_927213.1:n.265-2342del
XM_011515474.3:c.134+78del XP_011513776.1:n.134+78del
XM_017012520.2:c.134+78del XP_016868009.1:n.134+78del
XM_024446867.1:c.134+78del XP_024302635.1:n.134+78del
XR_001745190.1:n.266-2342del
NM_000712.4:c.134+78del MANE Select NP_000703.2:n.134+78del
NM_001253823.2:c.134+78del NP_001240752.1:n.134+78del