Canonical Allele Identifier: CA2539064904

Gene: BLVRA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43787942_43787943insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA , CM000669.2:g.43787942_43787943insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	GRCh38
NC_000007.13:g.43827541_43827542insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA , CM000669.1:g.43827541_43827542insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	GRCh37
NC_000007.12:g.43794066_43794067insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	NCBI36
NG_031876.1:g.34270_34271insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA MANE Select	ENSP00000265523.4:p.Arg18AsnfsTer?
ENST00000265523.8:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	ENSP00000265523.4:p.Arg18AsnfsTer?
ENST00000402924.5:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	ENSP00000385757.1:p.Arg18AsnfsTer?
ENST00000424330.1:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	ENSP00000412005.1:p.Arg18AsnfsTer?
ENST00000453612.1:n.75_76insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA
NM_000712.3:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	NP_000703.2:p.Arg18AsnfsTer?
NM_001253823.1:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	NP_001240752.1:p.Arg18AsnfsTer?
XM_011515474.1:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	XP_011513776.1:p.Arg18AsnfsTer?
XR_428136.2:n.265-2185_265-2184insTTGCAATCGCCCTTTGCAGAACCGCTTTAACGGTTTCCACCAATAATGCGCATTCTTTCTTGGTCAGCTTATTTGCCGGATGCAATGGCGAAATACCTGCCTTAAACAGACTTTCATTCGCATAAATATT
XR_927212.1:n.265-2185_265-2184insTTGCAATCGCCCTTTGCAGAACCGCTTTAACGGTTTCCACCAATAATGCGCATTCTTTCTTGGTCAGCTTATTTGCCGGATGCAATGGCGAAATACCTGCCTTAAACAGACTTTCATTCGCATAAATATT
XR_927213.1:n.265-2185_265-2184insTTGCAATCGCCCTTTGCAGAACCGCTTTAACGGTTTCCACCAATAATGCGCATTCTTTCTTGGTCAGCTTATTTGCCGGATGCAATGGCGAAATACCTGCCTTAAACAGACTTTCATTCGCATAAATATT
XM_011515474.3:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	XP_011513776.1:p.Arg18AsnfsTer?
XM_017012520.2:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	XP_016868009.1:p.Arg18AsnfsTer?
XM_024446867.1:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	XP_024302635.1:p.Arg18AsnfsTer?
XR_001745190.1:n.266-2185_266-2184insTTGCAATCGCCCTTTGCAGAACCGCTTTAACGGTTTCCACCAATAATGCGCATTCTTTCTTGGTCAGCTTATTTGCCGGATGCAATGGCGAAATACCTGCCTTAAACAGACTTTCATTCGCATAAATATT
NM_000712.4:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA MANE Select	NP_000703.2:p.Arg18AsnfsTer?
NM_001253823.2:c.51_52insAATATTTATGCGAATGAAAGTCTGTTTAAGGCAGGTATTTCGCCATTGCATCCGGCAAATAAGCTGACCAAGAAAGAATGCGCATTATTGGTGGAAACCGTTAAAGCGGTTCTGCAAAGGGCGATTGCAA	NP_001240752.1:p.Arg18AsnfsTer?