Canonical Allele Identifier: CA2665493244

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000183-CGGTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000184_47000188del , CM000665.2:g.47000184_47000188del	GRCh38
NC_000003.11:g.47041674_47041678del , CM000665.1:g.47041674_47041678del	GRCh37
NC_000003.10:g.47016678_47016682del	NCBI36
NG_031914.1:g.25502_25506del , LRG_568:g.25502_25506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4085_4089del MANE Select	ENSP00000415034.2:p.Arg1362GlnfsTer?
ENST00000651747.1:c.3983_3987del	ENSP00000499216.1:p.Arg1328GlnfsTer?
ENST00000652744.1:n.422_426del
ENST00000416683.5:c.1960-12_1960-8del
ENST00000450053.7:c.4085_4089del	ENSP00000415034.2:p.Arg1362GlnfsTer?
NM_015175.2:c.4085_4089del , LRG_568t1:c.4085_4089del	NP_055990.1:p.Arg1362GlnfsTer?
XM_005264992.2:c.3983_3987del	XP_005265049.1:p.Arg1328GlnfsTer?
XM_005264993.2:c.557_561del	XP_005265050.1:p.Arg186GlnfsTer?
XM_006713072.2:c.4004_4008del	XP_006713135.1:p.Arg1335GlnfsTer?
XM_011533532.1:c.4064_4068del	XP_011531834.1:p.Arg1355GlnfsTer?
XM_011533533.1:c.4085_4089del	XP_011531835.1:p.Arg1362GlnfsTer?
XM_011533534.1:c.3716_3720del	XP_011531836.1:p.Arg1239GlnfsTer?
XM_011533535.1:c.3545_3549del	XP_011531837.1:p.Arg1182GlnfsTer?
XM_011533536.1:c.3431_3435del	XP_011531838.1:p.Arg1144GlnfsTer?
XM_011533537.1:c.2993_2997del	XP_011531839.1:p.Arg998GlnfsTer?
XR_940397.1:n.4261_4265del
XR_940398.1:n.4261_4265del
NM_001365116.1:c.3983_3987del	NP_001352045.1:p.Arg1328GlnfsTer?
XM_006713072.3:c.4004_4008del	XP_006713135.1:p.Arg1335GlnfsTer?
XM_011533533.2:c.4085_4089del	XP_011531835.1:p.Arg1362GlnfsTer?
XM_017006010.1:c.4085_4089del	XP_016861499.1:p.Arg1362GlnfsTer?
XM_017006011.1:c.4064_4068del	XP_016861500.1:p.Arg1355GlnfsTer?
XM_017006012.1:c.4004_4008del	XP_016861501.1:p.Arg1335GlnfsTer?
XM_017006013.1:c.4085_4089del	XP_016861502.1:p.Arg1362GlnfsTer?
XM_017006014.1:c.3983_3987del	XP_016861503.1:p.Arg1328GlnfsTer?
XM_017006015.1:c.3716_3720del	XP_016861504.1:p.Arg1239GlnfsTer?
XM_017006016.1:c.3545_3549del	XP_016861505.1:p.Arg1182GlnfsTer?
XM_017006017.1:c.557_561del	XP_016861506.1:p.Arg186GlnfsTer?
XR_940397.2:n.4261_4265del
NM_001365116.2:c.3983_3987del	NP_001352045.1:p.Arg1328GlnfsTer?
NM_015175.3:c.4085_4089del MANE Select	NP_055990.1:p.Arg1362GlnfsTer?