Canonical Allele Identifier: CA2682551503

Gene: BLVRA

Linked Data

• gnomAD v4: 7-43787933-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43787935del , CM000669.2:g.43787935del	GRCh38
NC_000007.13:g.43827534del , CM000669.1:g.43827534del	GRCh37
NC_000007.12:g.43794059del	NCBI36
NG_031876.1:g.34263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.44del MANE Select	ENSP00000265523.4:p.Gly15ValfsTer10
ENST00000265523.8:c.44del	ENSP00000265523.4:p.Gly15ValfsTer10
ENST00000402924.5:c.44del	ENSP00000385757.1:p.Gly15ValfsTer10
ENST00000424330.1:c.44del	ENSP00000412005.1:p.Gly15ValfsTer10
ENST00000453612.1:n.68del
NM_000712.3:c.44del	NP_000703.2:p.Gly15ValfsTer10
NM_001253823.1:c.44del	NP_001240752.1:p.Gly15ValfsTer10
XM_011515474.1:c.44del	XP_011513776.1:p.Gly15ValfsTer10
XR_428136.2:n.265-2176del
XR_927212.1:n.265-2176del
XR_927213.1:n.265-2176del
XM_011515474.3:c.44del	XP_011513776.1:p.Gly15ValfsTer10
XM_017012520.2:c.44del	XP_016868009.1:p.Gly15ValfsTer10
XM_024446867.1:c.44del	XP_024302635.1:p.Gly15ValfsTer10
XR_001745190.1:n.266-2176del
NM_000712.4:c.44del MANE Select	NP_000703.2:p.Gly15ValfsTer10
NM_001253823.2:c.44del	NP_001240752.1:p.Gly15ValfsTer10