Canonical Allele Identifier: CA1362363103

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000277_47000295delinsATGGGCCGCGGCCCTTTCC , CM000665.2:g.47000277_47000295delinsATGGGCCGCGGCCCTTTCC	GRCh38
NC_000003.11:g.47041767_47041785delinsATGGGCCGCGGCCCTTTCC , CM000665.1:g.47041767_47041785delinsATGGGCCGCGGCCCTTTCC	GRCh37
NC_000003.10:g.47016771_47016789delinsATGGGCCGCGGCCCTTTCC	NCBI36
NG_031914.1:g.25595_25613delinsATGGGCCGCGGCCCTTTCC , LRG_568:g.25595_25613delinsATGGGCCGCGGCCCTTTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.4178_4196delinsATGGGCCGCGGCCCTTTCC MANE Select	ENSP00000415034.2:p.Asp1393=
ENST00000651747.1:c.4076_4094delinsATGGGCCGCGGCCCTTTCC	ENSP00000499216.1:p.Asp1359=
ENST00000416683.5:c.2041_2059delinsATGGGCCGCGGCCCTTTCC
ENST00000450053.7:c.4178_4196delinsATGGGCCGCGGCCCTTTCC	ENSP00000415034.2:p.Asp1393=
NM_015175.2:c.4178_4196delinsATGGGCCGCGGCCCTTTCC , LRG_568t1:c.4178_4196delinsATGGGCCGCGGCCCTTTCC	NP_055990.1:p.Asp1393=
XM_005264992.2:c.4076_4094delinsATGGGCCGCGGCCCTTTCC	XP_005265049.1:p.Asp1359=
XM_005264993.2:c.650_668delinsATGGGCCGCGGCCCTTTCC	XP_005265050.1:p.Asp217=
XM_006713072.2:c.4097_4115delinsATGGGCCGCGGCCCTTTCC	XP_006713135.1:p.Asp1366=
XM_011533532.1:c.4157_4175delinsATGGGCCGCGGCCCTTTCC	XP_011531834.1:p.Asp1386=
XM_011533533.1:c.4178_4196delinsATGGGCCGCGGCCCTTTCC	XP_011531835.1:p.Asp1393=
XM_011533534.1:c.3809_3827delinsATGGGCCGCGGCCCTTTCC	XP_011531836.1:p.Asp1270=
XM_011533535.1:c.3638_3656delinsATGGGCCGCGGCCCTTTCC	XP_011531837.1:p.Asp1213=
XM_011533536.1:c.3524_3542delinsATGGGCCGCGGCCCTTTCC	XP_011531838.1:p.Asp1175=
XM_011533537.1:c.3086_3104delinsATGGGCCGCGGCCCTTTCC	XP_011531839.1:p.Asp1029=
XR_940397.1:n.4354_4372delinsATGGGCCGCGGCCCTTTCC
XR_940398.1:n.4354_4372delinsATGGGCCGCGGCCCTTTCC
NM_001365116.1:c.4076_4094delinsATGGGCCGCGGCCCTTTCC	NP_001352045.1:p.Asp1359=
XM_006713072.3:c.4097_4115delinsATGGGCCGCGGCCCTTTCC	XP_006713135.1:p.Asp1366=
XM_011533533.2:c.4178_4196delinsATGGGCCGCGGCCCTTTCC	XP_011531835.1:p.Asp1393=
XM_017006010.1:c.4178_4196delinsATGGGCCGCGGCCCTTTCC	XP_016861499.1:p.Asp1393=
XM_017006011.1:c.4157_4175delinsATGGGCCGCGGCCCTTTCC	XP_016861500.1:p.Asp1386=
XM_017006012.1:c.4097_4115delinsATGGGCCGCGGCCCTTTCC	XP_016861501.1:p.Asp1366=
XM_017006013.1:c.4178_4196delinsATGGGCCGCGGCCCTTTCC	XP_016861502.1:p.Asp1393=
XM_017006014.1:c.4076_4094delinsATGGGCCGCGGCCCTTTCC	XP_016861503.1:p.Asp1359=
XM_017006015.1:c.3809_3827delinsATGGGCCGCGGCCCTTTCC	XP_016861504.1:p.Asp1270=
XM_017006016.1:c.3638_3656delinsATGGGCCGCGGCCCTTTCC	XP_016861505.1:p.Asp1213=
XM_017006017.1:c.650_668delinsATGGGCCGCGGCCCTTTCC	XP_016861506.1:p.Asp217=
XR_940397.2:n.4354_4372delinsATGGGCCGCGGCCCTTTCC
NM_001365116.2:c.4076_4094delinsATGGGCCGCGGCCCTTTCC	NP_001352045.1:p.Asp1359=
NM_015175.3:c.4178_4196delinsATGGGCCGCGGCCCTTTCC MANE Select	NP_055990.1:p.Asp1393=