Canonical Allele Identifier: CA1362363150

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000360_47000363delinsCCCA , CM000665.2:g.47000360_47000363delinsCCCA	GRCh38
NC_000003.11:g.47041850_47041853delinsCCCA , CM000665.1:g.47041850_47041853delinsCCCA	GRCh37
NC_000003.10:g.47016854_47016857delinsCCCA	NCBI36
NG_031914.1:g.25678_25681delinsCCCA , LRG_568:g.25678_25681delinsCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4261_4264delinsCCCA MANE Select	ENSP00000415034.2:p.Pro1421=
ENST00000651747.1:c.4159_4162delinsCCCA	ENSP00000499216.1:p.Pro1387=
ENST00000416683.5:c.2124_2127delinsCCCA
ENST00000450053.7:c.4261_4264delinsCCCA	ENSP00000415034.2:p.Pro1421=
NM_015175.2:c.4261_4264delinsCCCA , LRG_568t1:c.4261_4264delinsCCCA	NP_055990.1:p.Pro1421=
XM_005264992.2:c.4159_4162delinsCCCA	XP_005265049.1:p.Pro1387=
XM_005264993.2:c.733_736delinsCCCA	XP_005265050.1:p.Pro245=
XM_006713072.2:c.4180_4183delinsCCCA	XP_006713135.1:p.Pro1394=
XM_011533532.1:c.4240_4243delinsCCCA	XP_011531834.1:p.Pro1414=
XM_011533533.1:c.4261_4264delinsCCCA	XP_011531835.1:p.Pro1421=
XM_011533534.1:c.3892_3895delinsCCCA	XP_011531836.1:p.Pro1298=
XM_011533535.1:c.3721_3724delinsCCCA	XP_011531837.1:p.Pro1241=
XM_011533536.1:c.3607_3610delinsCCCA	XP_011531838.1:p.Pro1203=
XM_011533537.1:c.3169_3172delinsCCCA	XP_011531839.1:p.Pro1057=
XR_940397.1:n.4437_4440delinsCCCA
XR_940398.1:n.4437_4440delinsCCCA
NM_001365116.1:c.4159_4162delinsCCCA	NP_001352045.1:p.Pro1387=
XM_006713072.3:c.4180_4183delinsCCCA	XP_006713135.1:p.Pro1394=
XM_011533533.2:c.4261_4264delinsCCCA	XP_011531835.1:p.Pro1421=
XM_017006010.1:c.4261_4264delinsCCCA	XP_016861499.1:p.Pro1421=
XM_017006011.1:c.4240_4243delinsCCCA	XP_016861500.1:p.Pro1414=
XM_017006012.1:c.4180_4183delinsCCCA	XP_016861501.1:p.Pro1394=
XM_017006013.1:c.4261_4264delinsCCCA	XP_016861502.1:p.Pro1421=
XM_017006014.1:c.4159_4162delinsCCCA	XP_016861503.1:p.Pro1387=
XM_017006015.1:c.3892_3895delinsCCCA	XP_016861504.1:p.Pro1298=
XM_017006016.1:c.3721_3724delinsCCCA	XP_016861505.1:p.Pro1241=
XM_017006017.1:c.733_736delinsCCCA	XP_016861506.1:p.Pro245=
XR_940397.2:n.4437_4440delinsCCCA
NM_001365116.2:c.4159_4162delinsCCCA	NP_001352045.1:p.Pro1387=
NM_015175.3:c.4261_4264delinsCCCA MANE Select	NP_055990.1:p.Pro1421=