Canonical Allele Identifier: CA1047549676

Gene: NBEAL2

Linked Data

• dbSNP Id: rs2036851759
• gnomAD v3: 3-47000072-CCTG-C
• gnomAD v4: 3-47000072-CCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000076_47000078del , CM000665.2:g.47000076_47000078del	GRCh38
NC_000003.11:g.47041566_47041568del , CM000665.1:g.47041566_47041568del	GRCh37
NC_000003.10:g.47016570_47016572del	NCBI36
NG_031914.1:g.25394_25396del , LRG_568:g.25394_25396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3977_3979del MANE Select	ENSP00000415034.2:p.Ala1326del
ENST00000651747.1:c.3875_3877del	ENSP00000499216.1:p.Ala1292del
ENST00000652744.1:n.314_316del
ENST00000416683.5:c.1960-120_1960-118del
ENST00000450053.7:c.3977_3979del	ENSP00000415034.2:p.Ala1326del
NM_015175.2:c.3977_3979del , LRG_568t1:c.3977_3979del	NP_055990.1:p.Ala1326del
XM_005264992.2:c.3875_3877del	XP_005265049.1:p.Ala1292del
XM_005264993.2:c.449_451del	XP_005265050.1:p.Ala150del
XM_006713072.2:c.3896_3898del	XP_006713135.1:p.Ala1299del
XM_011533532.1:c.3956_3958del	XP_011531834.1:p.Ala1319del
XM_011533533.1:c.3977_3979del	XP_011531835.1:p.Ala1326del
XM_011533534.1:c.3608_3610del	XP_011531836.1:p.Ala1203del
XM_011533535.1:c.3437_3439del	XP_011531837.1:p.Ala1146del
XM_011533536.1:c.3323_3325del	XP_011531838.1:p.Ala1108del
XM_011533537.1:c.2885_2887del	XP_011531839.1:p.Ala962del
XR_940397.1:n.4153_4155del
XR_940398.1:n.4153_4155del
NM_001365116.1:c.3875_3877del	NP_001352045.1:p.Ala1292del
XM_006713072.3:c.3896_3898del	XP_006713135.1:p.Ala1299del
XM_011533533.2:c.3977_3979del	XP_011531835.1:p.Ala1326del
XM_017006010.1:c.3977_3979del	XP_016861499.1:p.Ala1326del
XM_017006011.1:c.3956_3958del	XP_016861500.1:p.Ala1319del
XM_017006012.1:c.3896_3898del	XP_016861501.1:p.Ala1299del
XM_017006013.1:c.3977_3979del	XP_016861502.1:p.Ala1326del
XM_017006014.1:c.3875_3877del	XP_016861503.1:p.Ala1292del
XM_017006015.1:c.3608_3610del	XP_016861504.1:p.Ala1203del
XM_017006016.1:c.3437_3439del	XP_016861505.1:p.Ala1146del
XM_017006017.1:c.449_451del	XP_016861506.1:p.Ala150del
XR_940397.2:n.4153_4155del
NM_001365116.2:c.3875_3877del	NP_001352045.1:p.Ala1292del
NM_015175.3:c.3977_3979del MANE Select	NP_055990.1:p.Ala1326del