Canonical Allele Identifier: CA1362363159

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000374_47000377delinsGGAT , CM000665.2:g.47000374_47000377delinsGGAT	GRCh38
NC_000003.11:g.47041864_47041867delinsGGAT , CM000665.1:g.47041864_47041867delinsGGAT	GRCh37
NC_000003.10:g.47016868_47016871delinsGGAT	NCBI36
NG_031914.1:g.25692_25695delinsGGAT , LRG_568:g.25692_25695delinsGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4275_4278delinsGGAT MANE Select	ENSP00000415034.2:p.Gly1425=
ENST00000651747.1:c.4173_4176delinsGGAT	ENSP00000499216.1:p.Gly1391=
ENST00000416683.5:c.2138_2141delinsGGAT
ENST00000450053.7:c.4275_4278delinsGGAT	ENSP00000415034.2:p.Gly1425=
NM_015175.2:c.4275_4278delinsGGAT , LRG_568t1:c.4275_4278delinsGGAT	NP_055990.1:p.Gly1425=
XM_005264992.2:c.4173_4176delinsGGAT	XP_005265049.1:p.Gly1391=
XM_005264993.2:c.747_750delinsGGAT	XP_005265050.1:p.Gly249=
XM_006713072.2:c.4194_4197delinsGGAT	XP_006713135.1:p.Gly1398=
XM_011533532.1:c.4254_4257delinsGGAT	XP_011531834.1:p.Gly1418=
XM_011533533.1:c.4275_4278delinsGGAT	XP_011531835.1:p.Gly1425=
XM_011533534.1:c.3906_3909delinsGGAT	XP_011531836.1:p.Gly1302=
XM_011533535.1:c.3735_3738delinsGGAT	XP_011531837.1:p.Gly1245=
XM_011533536.1:c.3621_3624delinsGGAT	XP_011531838.1:p.Gly1207=
XM_011533537.1:c.3183_3186delinsGGAT	XP_011531839.1:p.Gly1061=
XR_940397.1:n.4451_4454delinsGGAT
XR_940398.1:n.4451_4454delinsGGAT
NM_001365116.1:c.4173_4176delinsGGAT	NP_001352045.1:p.Gly1391=
XM_006713072.3:c.4194_4197delinsGGAT	XP_006713135.1:p.Gly1398=
XM_011533533.2:c.4275_4278delinsGGAT	XP_011531835.1:p.Gly1425=
XM_017006010.1:c.4275_4278delinsGGAT	XP_016861499.1:p.Gly1425=
XM_017006011.1:c.4254_4257delinsGGAT	XP_016861500.1:p.Gly1418=
XM_017006012.1:c.4194_4197delinsGGAT	XP_016861501.1:p.Gly1398=
XM_017006013.1:c.4275_4278delinsGGAT	XP_016861502.1:p.Gly1425=
XM_017006014.1:c.4173_4176delinsGGAT	XP_016861503.1:p.Gly1391=
XM_017006015.1:c.3906_3909delinsGGAT	XP_016861504.1:p.Gly1302=
XM_017006016.1:c.3735_3738delinsGGAT	XP_016861505.1:p.Gly1245=
XM_017006017.1:c.747_750delinsGGAT	XP_016861506.1:p.Gly249=
XR_940397.2:n.4451_4454delinsGGAT
NM_001365116.2:c.4173_4176delinsGGAT	NP_001352045.1:p.Gly1391=
NM_015175.3:c.4275_4278delinsGGAT MANE Select	NP_055990.1:p.Gly1425=