Canonical Allele Identifier: CA433598259

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041708_47041709insGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000222_47000224dup , CM000665.2:g.47000222_47000224dup	GRCh38
NC_000003.11:g.47041712_47041714dup , CM000665.1:g.47041712_47041714dup	GRCh37
NC_000003.10:g.47016716_47016718dup	NCBI36
NG_031914.1:g.25540_25542dup , LRG_568:g.25540_25542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4123_4125dup MANE Select	ENSP00000415034.2:p.Gly1375_Ser1376insGly
ENST00000651747.1:c.4021_4023dup	ENSP00000499216.1:p.Gly1341_Ser1342insGly
ENST00000652744.1:n.460_462dup
ENST00000416683.5:c.1986_1988dup
ENST00000450053.7:c.4123_4125dup	ENSP00000415034.2:p.Gly1375_Ser1376insGly
NM_015175.2:c.4123_4125dup , LRG_568t1:c.4123_4125dup	NP_055990.1:p.Gly1375_Ser1376insGly
XM_005264992.2:c.4021_4023dup	XP_005265049.1:p.Gly1341_Ser1342insGly
XM_005264993.2:c.595_597dup	XP_005265050.1:p.Gly199_Ser200insGly
XM_006713072.2:c.4042_4044dup	XP_006713135.1:p.Gly1348_Ser1349insGly
XM_011533532.1:c.4102_4104dup	XP_011531834.1:p.Gly1368_Ser1369insGly
XM_011533533.1:c.4123_4125dup	XP_011531835.1:p.Gly1375_Ser1376insGly
XM_011533534.1:c.3754_3756dup	XP_011531836.1:p.Gly1252_Ser1253insGly
XM_011533535.1:c.3583_3585dup	XP_011531837.1:p.Gly1195_Ser1196insGly
XM_011533536.1:c.3469_3471dup	XP_011531838.1:p.Gly1157_Ser1158insGly
XM_011533537.1:c.3031_3033dup	XP_011531839.1:p.Gly1011_Ser1012insGly
XR_940397.1:n.4299_4301dup
XR_940398.1:n.4299_4301dup
NM_001365116.1:c.4021_4023dup	NP_001352045.1:p.Gly1341_Ser1342insGly
XM_006713072.3:c.4042_4044dup	XP_006713135.1:p.Gly1348_Ser1349insGly
XM_011533533.2:c.4123_4125dup	XP_011531835.1:p.Gly1375_Ser1376insGly
XM_017006010.1:c.4123_4125dup	XP_016861499.1:p.Gly1375_Ser1376insGly
XM_017006011.1:c.4102_4104dup	XP_016861500.1:p.Gly1368_Ser1369insGly
XM_017006012.1:c.4042_4044dup	XP_016861501.1:p.Gly1348_Ser1349insGly
XM_017006013.1:c.4123_4125dup	XP_016861502.1:p.Gly1375_Ser1376insGly
XM_017006014.1:c.4021_4023dup	XP_016861503.1:p.Gly1341_Ser1342insGly
XM_017006015.1:c.3754_3756dup	XP_016861504.1:p.Gly1252_Ser1253insGly
XM_017006016.1:c.3583_3585dup	XP_016861505.1:p.Gly1195_Ser1196insGly
XM_017006017.1:c.595_597dup	XP_016861506.1:p.Gly199_Ser200insGly
XR_940397.2:n.4299_4301dup
NM_001365116.2:c.4021_4023dup	NP_001352045.1:p.Gly1341_Ser1342insGly
NM_015175.3:c.4123_4125dup MANE Select	NP_055990.1:p.Gly1375_Ser1376insGly