Canonical Allele Identifier: CA2775221933

Gene: BLVRA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43787947_43787948insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC , CM000669.2:g.43787947_43787948insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	GRCh38
NC_000007.13:g.43827546_43827547insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC , CM000669.1:g.43827546_43827547insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	GRCh37
NC_000007.12:g.43794071_43794072insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	NCBI36
NG_031876.1:g.34275_34276insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC MANE Select	ENSP00000265523.4:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAla...
ENST00000265523.8:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	ENSP00000265523.4:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAla...
ENST00000402924.5:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	ENSP00000385757.1:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAla...
ENST00000424330.1:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	ENSP00000412005.1:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAla...
ENST00000453612.1:n.80_81insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC
NM_000712.3:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	NP_000703.2:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAlaGlySer...
NM_001253823.1:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	NP_001240752.1:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAlaGly...
XM_011515474.1:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	XP_011513776.1:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAlaGly...
XR_428136.2:n.265-2185_265-2184insTCGGGACCCTGCCAGCTCCTTTGTTTTGTAGTTTTCTGCTCG
XR_927212.1:n.265-2185_265-2184insTCGGGACCCTGCCAGCTCCTTTGTTTTGTAGTTTTCTGCTCG
XR_927213.1:n.265-2185_265-2184insTCGGGACCCTGCCAGCTCCTTTGTTTTGTAGTTTTCTGCTCG
XM_011515474.3:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	XP_011513776.1:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAlaGly...
XM_017012520.2:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	XP_016868009.1:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAlaGly...
XM_024446867.1:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	XP_024302635.1:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAlaGly...
XR_001745190.1:n.266-2185_266-2184insTCGGGACCCTGCCAGCTCCTTTGTTTTGTAGTTTTCTGCTCG
NM_000712.4:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC MANE Select	NP_000703.2:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAlaGlySer...
NM_001253823.2:c.56_57insAGAAAACTACAAAACAAAGGAGCTGGCAGGGTCCCGACGAGC	NP_001240752.1:p.Ala19_Gly20insGluAsnTyrLysThrLysGluLeuAlaGly...