Canonical Allele Identifier: CA1362363036

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000141_47000143delinsGCT , CM000665.2:g.47000141_47000143delinsGCT	GRCh38
NC_000003.11:g.47041631_47041633delinsGCT , CM000665.1:g.47041631_47041633delinsGCT	GRCh37
NC_000003.10:g.47016635_47016637delinsGCT	NCBI36
NG_031914.1:g.25459_25461delinsGCT , LRG_568:g.25459_25461delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4042_4044delinsGCT MANE Select	ENSP00000415034.2:p.Ala1348=
ENST00000651747.1:c.3940_3942delinsGCT	ENSP00000499216.1:p.Ala1314=
ENST00000652744.1:n.379_381delinsGCT
ENST00000416683.5:c.1960-55_1960-53delinsGCT
ENST00000450053.7:c.4042_4044delinsGCT	ENSP00000415034.2:p.Ala1348=
NM_015175.2:c.4042_4044delinsGCT , LRG_568t1:c.4042_4044delinsGCT	NP_055990.1:p.Ala1348=
XM_005264992.2:c.3940_3942delinsGCT	XP_005265049.1:p.Ala1314=
XM_005264993.2:c.514_516delinsGCT	XP_005265050.1:p.Ala172=
XM_006713072.2:c.3961_3963delinsGCT	XP_006713135.1:p.Ala1321=
XM_011533532.1:c.4021_4023delinsGCT	XP_011531834.1:p.Ala1341=
XM_011533533.1:c.4042_4044delinsGCT	XP_011531835.1:p.Ala1348=
XM_011533534.1:c.3673_3675delinsGCT	XP_011531836.1:p.Ala1225=
XM_011533535.1:c.3502_3504delinsGCT	XP_011531837.1:p.Ala1168=
XM_011533536.1:c.3388_3390delinsGCT	XP_011531838.1:p.Ala1130=
XM_011533537.1:c.2950_2952delinsGCT	XP_011531839.1:p.Ala984=
XR_940397.1:n.4218_4220delinsGCT
XR_940398.1:n.4218_4220delinsGCT
NM_001365116.1:c.3940_3942delinsGCT	NP_001352045.1:p.Ala1314=
XM_006713072.3:c.3961_3963delinsGCT	XP_006713135.1:p.Ala1321=
XM_011533533.2:c.4042_4044delinsGCT	XP_011531835.1:p.Ala1348=
XM_017006010.1:c.4042_4044delinsGCT	XP_016861499.1:p.Ala1348=
XM_017006011.1:c.4021_4023delinsGCT	XP_016861500.1:p.Ala1341=
XM_017006012.1:c.3961_3963delinsGCT	XP_016861501.1:p.Ala1321=
XM_017006013.1:c.4042_4044delinsGCT	XP_016861502.1:p.Ala1348=
XM_017006014.1:c.3940_3942delinsGCT	XP_016861503.1:p.Ala1314=
XM_017006015.1:c.3673_3675delinsGCT	XP_016861504.1:p.Ala1225=
XM_017006016.1:c.3502_3504delinsGCT	XP_016861505.1:p.Ala1168=
XM_017006017.1:c.514_516delinsGCT	XP_016861506.1:p.Ala172=
XR_940397.2:n.4218_4220delinsGCT
NM_001365116.2:c.3940_3942delinsGCT	NP_001352045.1:p.Ala1314=
NM_015175.3:c.4042_4044delinsGCT MANE Select	NP_055990.1:p.Ala1348=