Canonical Allele Identifier: CA1362363096

Gene: NBEAL2

Linked Data

• dbSNP Id: rs2036871703

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000268_47000269insT , CM000665.2:g.47000268_47000269insT	GRCh38
NC_000003.11:g.47041758_47041759insT , CM000665.1:g.47041758_47041759insT	GRCh37
NC_000003.10:g.47016762_47016763insT	NCBI36
NG_031914.1:g.25586_25587insT , LRG_568:g.25586_25587insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4169_4170insT MANE Select	ENSP00000415034.2:p.Pro1391AlafsTer?
ENST00000651747.1:c.4067_4068insT	ENSP00000499216.1:p.Pro1357AlafsTer?
ENST00000416683.5:c.2032_2033insT
ENST00000450053.7:c.4169_4170insT	ENSP00000415034.2:p.Pro1391AlafsTer?
NM_015175.2:c.4169_4170insT , LRG_568t1:c.4169_4170insT	NP_055990.1:p.Pro1391AlafsTer?
XM_005264992.2:c.4067_4068insT	XP_005265049.1:p.Pro1357AlafsTer?
XM_005264993.2:c.641_642insT	XP_005265050.1:p.Pro215AlafsTer?
XM_006713072.2:c.4088_4089insT	XP_006713135.1:p.Pro1364AlafsTer?
XM_011533532.1:c.4148_4149insT	XP_011531834.1:p.Pro1384AlafsTer?
XM_011533533.1:c.4169_4170insT	XP_011531835.1:p.Pro1391AlafsTer?
XM_011533534.1:c.3800_3801insT	XP_011531836.1:p.Pro1268AlafsTer?
XM_011533535.1:c.3629_3630insT	XP_011531837.1:p.Pro1211AlafsTer?
XM_011533536.1:c.3515_3516insT	XP_011531838.1:p.Pro1173AlafsTer?
XM_011533537.1:c.3077_3078insT	XP_011531839.1:p.Pro1027AlafsTer?
XR_940397.1:n.4345_4346insT
XR_940398.1:n.4345_4346insT
NM_001365116.1:c.4067_4068insT	NP_001352045.1:p.Pro1357AlafsTer?
XM_006713072.3:c.4088_4089insT	XP_006713135.1:p.Pro1364AlafsTer?
XM_011533533.2:c.4169_4170insT	XP_011531835.1:p.Pro1391AlafsTer?
XM_017006010.1:c.4169_4170insT	XP_016861499.1:p.Pro1391AlafsTer?
XM_017006011.1:c.4148_4149insT	XP_016861500.1:p.Pro1384AlafsTer?
XM_017006012.1:c.4088_4089insT	XP_016861501.1:p.Pro1364AlafsTer?
XM_017006013.1:c.4169_4170insT	XP_016861502.1:p.Pro1391AlafsTer?
XM_017006014.1:c.4067_4068insT	XP_016861503.1:p.Pro1357AlafsTer?
XM_017006015.1:c.3800_3801insT	XP_016861504.1:p.Pro1268AlafsTer?
XM_017006016.1:c.3629_3630insT	XP_016861505.1:p.Pro1211AlafsTer?
XM_017006017.1:c.641_642insT	XP_016861506.1:p.Pro215AlafsTer?
XR_940397.2:n.4345_4346insT
NM_001365116.2:c.4067_4068insT	NP_001352045.1:p.Pro1357AlafsTer?
NM_015175.3:c.4169_4170insT MANE Select	NP_055990.1:p.Pro1391AlafsTer?