Canonical Allele Identifier: CA573782616

Gene: BLVRA

Linked Data

• dbSNP Id: rs1410030468
• gnomAD v2: 7-43827664-GC-G
• gnomAD v4: 7-43788065-GC-G
• MyVariant Identifiers: chr7:g.43827665del (hg19) ; chr7:g.43788066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43788068del , CM000669.2:g.43788068del	GRCh38
NC_000007.13:g.43827667del , CM000669.1:g.43827667del	GRCh37
NC_000007.12:g.43794192del	NCBI36
NG_031876.1:g.34396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.134+43del MANE Select	ENSP00000265523.4:n.134+43del
ENST00000265523.8:c.134+43del	ENSP00000265523.4:n.134+43del
ENST00000402924.5:c.134+43del	ENSP00000385757.1:n.134+43del
ENST00000424330.1:c.134+43del	ENSP00000412005.1:n.134+43del
ENST00000453612.1:n.158+43del
NM_000712.3:c.134+43del	NP_000703.2:n.134+43del
NM_001253823.1:c.134+43del	NP_001240752.1:n.134+43del
XM_011515474.1:c.134+43del	XP_011513776.1:n.134+43del
XR_428136.2:n.265-2308del
XR_927212.1:n.265-2308del
XR_927213.1:n.265-2308del
XM_011515474.3:c.134+43del	XP_011513776.1:n.134+43del
XM_017012520.2:c.134+43del	XP_016868009.1:n.134+43del
XM_024446867.1:c.134+43del	XP_024302635.1:n.134+43del
XR_001745190.1:n.266-2308del
NM_000712.4:c.134+43del MANE Select	NP_000703.2:n.134+43del
NM_001253823.2:c.134+43del	NP_001240752.1:n.134+43del