Canonical Allele Identifier: CA1703472839

Gene: BLVRA

Linked Data

• dbSNP Id: rs2095780230

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43788018_43788019insAGCAGAAAAC , CM000669.2:g.43788018_43788019insAGCAGAAAAC	GRCh38
NC_000007.13:g.43827617_43827618insAGCAGAAAAC , CM000669.1:g.43827617_43827618insAGCAGAAAAC	GRCh37
NC_000007.12:g.43794142_43794143insAGCAGAAAAC	NCBI36
NG_031876.1:g.34346_34347insAGCAGAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.127_128insAGCAGAAAAC MANE Select	ENSP00000265523.4:p.Val43GlufsTer13
ENST00000265523.8:c.127_128insAGCAGAAAAC	ENSP00000265523.4:p.Val43GlufsTer13
ENST00000402924.5:c.127_128insAGCAGAAAAC	ENSP00000385757.1:p.Val43GlufsTer13
ENST00000424330.1:c.127_128insAGCAGAAAAC	ENSP00000412005.1:p.Val43GlufsTer13
ENST00000453612.1:n.151_152insAGCAGAAAAC
NM_000712.3:c.127_128insAGCAGAAAAC	NP_000703.2:p.Val43GlufsTer13
NM_001253823.1:c.127_128insAGCAGAAAAC	NP_001240752.1:p.Val43GlufsTer13
XM_011515474.1:c.127_128insAGCAGAAAAC	XP_011513776.1:p.Val43GlufsTer13
XR_428136.2:n.265-2261_265-2260insGTTTTCTGCT
XR_927212.1:n.265-2261_265-2260insGTTTTCTGCT
XR_927213.1:n.265-2261_265-2260insGTTTTCTGCT
XM_011515474.3:c.127_128insAGCAGAAAAC	XP_011513776.1:p.Val43GlufsTer13
XM_017012520.2:c.127_128insAGCAGAAAAC	XP_016868009.1:p.Val43GlufsTer13
XM_024446867.1:c.127_128insAGCAGAAAAC	XP_024302635.1:p.Val43GlufsTer13
XR_001745190.1:n.266-2261_266-2260insGTTTTCTGCT
NM_000712.4:c.127_128insAGCAGAAAAC MANE Select	NP_000703.2:p.Val43GlufsTer13
NM_001253823.2:c.127_128insAGCAGAAAAC	NP_001240752.1:p.Val43GlufsTer13