Canonical Allele Identifier: CA2665493212

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-46999889-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999893del , CM000665.2:g.46999893del	GRCh38
NC_000003.11:g.47041383del , CM000665.1:g.47041383del	GRCh37
NC_000003.10:g.47016387del	NCBI36
NG_031914.1:g.25211del , LRG_568:g.25211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3794del MANE Select	ENSP00000415034.2:p.Phe1265SerfsTer10
ENST00000651747.1:c.3692del	ENSP00000499216.1:p.Phe1231SerfsTer10
ENST00000652744.1:n.131del
ENST00000416683.5:c.1960-303del
ENST00000450053.7:c.3794del	ENSP00000415034.2:p.Phe1265SerfsTer10
NM_015175.2:c.3794del , LRG_568t1:c.3794del	NP_055990.1:p.Phe1265SerfsTer10
XM_005264992.2:c.3692del	XP_005265049.1:p.Phe1231SerfsTer10
XM_005264993.2:c.266del	XP_005265050.1:p.Phe89SerfsTer10
XM_006713072.2:c.3713del	XP_006713135.1:p.Phe1238SerfsTer10
XM_011533532.1:c.3773del	XP_011531834.1:p.Phe1258SerfsTer10
XM_011533533.1:c.3794del	XP_011531835.1:p.Phe1265SerfsTer10
XM_011533534.1:c.3425del	XP_011531836.1:p.Phe1142SerfsTer10
XM_011533535.1:c.3254del	XP_011531837.1:p.Phe1085SerfsTer10
XM_011533536.1:c.3140del	XP_011531838.1:p.Phe1047SerfsTer10
XM_011533537.1:c.2702del	XP_011531839.1:p.Phe901SerfsTer10
XR_940397.1:n.3970del
XR_940398.1:n.3970del
NM_001365116.1:c.3692del	NP_001352045.1:p.Phe1231SerfsTer10
XM_006713072.3:c.3713del	XP_006713135.1:p.Phe1238SerfsTer10
XM_011533533.2:c.3794del	XP_011531835.1:p.Phe1265SerfsTer10
XM_017006010.1:c.3794del	XP_016861499.1:p.Phe1265SerfsTer10
XM_017006011.1:c.3773del	XP_016861500.1:p.Phe1258SerfsTer10
XM_017006012.1:c.3713del	XP_016861501.1:p.Phe1238SerfsTer10
XM_017006013.1:c.3794del	XP_016861502.1:p.Phe1265SerfsTer10
XM_017006014.1:c.3692del	XP_016861503.1:p.Phe1231SerfsTer10
XM_017006015.1:c.3425del	XP_016861504.1:p.Phe1142SerfsTer10
XM_017006016.1:c.3254del	XP_016861505.1:p.Phe1085SerfsTer10
XM_017006017.1:c.266del	XP_016861506.1:p.Phe89SerfsTer10
XR_940397.2:n.3970del
NM_001365116.2:c.3692del	NP_001352045.1:p.Phe1231SerfsTer10
NM_015175.3:c.3794del MANE Select	NP_055990.1:p.Phe1265SerfsTer10