Canonical Allele Identifier: CA1362363160

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000375_47000376delinsGA , CM000665.2:g.47000375_47000376delinsGA	GRCh38
NC_000003.11:g.47041865_47041866delinsGA , CM000665.1:g.47041865_47041866delinsGA	GRCh37
NC_000003.10:g.47016869_47016870delinsGA	NCBI36
NG_031914.1:g.25693_25694delinsGA , LRG_568:g.25693_25694delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4276_4277delinsGA MANE Select	ENSP00000415034.2:p.Asp1426=
ENST00000651747.1:c.4174_4175delinsGA	ENSP00000499216.1:p.Asp1392=
ENST00000416683.5:c.2139_2140delinsGA
ENST00000450053.7:c.4276_4277delinsGA	ENSP00000415034.2:p.Asp1426=
NM_015175.2:c.4276_4277delinsGA , LRG_568t1:c.4276_4277delinsGA	NP_055990.1:p.Asp1426=
XM_005264992.2:c.4174_4175delinsGA	XP_005265049.1:p.Asp1392=
XM_005264993.2:c.748_749delinsGA	XP_005265050.1:p.Asp250=
XM_006713072.2:c.4195_4196delinsGA	XP_006713135.1:p.Asp1399=
XM_011533532.1:c.4255_4256delinsGA	XP_011531834.1:p.Asp1419=
XM_011533533.1:c.4276_4277delinsGA	XP_011531835.1:p.Asp1426=
XM_011533534.1:c.3907_3908delinsGA	XP_011531836.1:p.Asp1303=
XM_011533535.1:c.3736_3737delinsGA	XP_011531837.1:p.Asp1246=
XM_011533536.1:c.3622_3623delinsGA	XP_011531838.1:p.Asp1208=
XM_011533537.1:c.3184_3185delinsGA	XP_011531839.1:p.Asp1062=
XR_940397.1:n.4452_4453delinsGA
XR_940398.1:n.4452_4453delinsGA
NM_001365116.1:c.4174_4175delinsGA	NP_001352045.1:p.Asp1392=
XM_006713072.3:c.4195_4196delinsGA	XP_006713135.1:p.Asp1399=
XM_011533533.2:c.4276_4277delinsGA	XP_011531835.1:p.Asp1426=
XM_017006010.1:c.4276_4277delinsGA	XP_016861499.1:p.Asp1426=
XM_017006011.1:c.4255_4256delinsGA	XP_016861500.1:p.Asp1419=
XM_017006012.1:c.4195_4196delinsGA	XP_016861501.1:p.Asp1399=
XM_017006013.1:c.4276_4277delinsGA	XP_016861502.1:p.Asp1426=
XM_017006014.1:c.4174_4175delinsGA	XP_016861503.1:p.Asp1392=
XM_017006015.1:c.3907_3908delinsGA	XP_016861504.1:p.Asp1303=
XM_017006016.1:c.3736_3737delinsGA	XP_016861505.1:p.Asp1246=
XM_017006017.1:c.748_749delinsGA	XP_016861506.1:p.Asp250=
XR_940397.2:n.4452_4453delinsGA
NM_001365116.2:c.4174_4175delinsGA	NP_001352045.1:p.Asp1392=
NM_015175.3:c.4276_4277delinsGA MANE Select	NP_055990.1:p.Asp1426=