Canonical Allele Identifier: CA1362362876

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999809_46999812delinsCCCT , CM000665.2:g.46999809_46999812delinsCCCT	GRCh38
NC_000003.11:g.47041299_47041302delinsCCCT , CM000665.1:g.47041299_47041302delinsCCCT	GRCh37
NC_000003.10:g.47016303_47016306delinsCCCT	NCBI36
NG_031914.1:g.25127_25130delinsCCCT , LRG_568:g.25127_25130delinsCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3790-80_3790-77delinsCCCT MANE Select	ENSP00000415034.2:n.3790-80_3790-77delinsCCCT
ENST00000651747.1:c.3688-80_3688-77delinsCCCT	ENSP00000499216.1:n.3688-80_3688-77delinsCCCT
ENST00000652744.1:n.127-80_127-77delinsCCCT
ENST00000416683.5:c.1959+335_1959+338delinsCCCT
ENST00000450053.7:c.3790-80_3790-77delinsCCCT	ENSP00000415034.2:n.3790-80_3790-77delinsCCCT
NM_015175.2:c.3790-80_3790-77delinsCCCT , LRG_568t1:c.3790-80_3790-77delinsCCCT	NP_055990.1:n.3790-80_3790-77delinsCCCT
XM_005264992.2:c.3688-80_3688-77delinsCCCT	XP_005265049.1:n.3688-80_3688-77delinsCCCT
XM_005264993.2:c.262-80_262-77delinsCCCT	XP_005265050.1:n.262-80_262-77delinsCCCT
XM_006713072.2:c.3709-80_3709-77delinsCCCT	XP_006713135.1:n.3709-80_3709-77delinsCCCT
XM_011533532.1:c.3769-80_3769-77delinsCCCT	XP_011531834.1:n.3769-80_3769-77delinsCCCT
XM_011533533.1:c.3790-80_3790-77delinsCCCT	XP_011531835.1:n.3790-80_3790-77delinsCCCT
XM_011533534.1:c.3421-80_3421-77delinsCCCT	XP_011531836.1:n.3421-80_3421-77delinsCCCT
XM_011533535.1:c.3250-80_3250-77delinsCCCT	XP_011531837.1:n.3250-80_3250-77delinsCCCT
XM_011533536.1:c.3136-80_3136-77delinsCCCT	XP_011531838.1:n.3136-80_3136-77delinsCCCT
XM_011533537.1:c.2698-80_2698-77delinsCCCT	XP_011531839.1:n.2698-80_2698-77delinsCCCT
XR_940397.1:n.3966-80_3966-77delinsCCCT
XR_940398.1:n.3966-80_3966-77delinsCCCT
NM_001365116.1:c.3688-80_3688-77delinsCCCT	NP_001352045.1:n.3688-80_3688-77delinsCCCT
XM_006713072.3:c.3709-80_3709-77delinsCCCT	XP_006713135.1:n.3709-80_3709-77delinsCCCT
XM_011533533.2:c.3790-80_3790-77delinsCCCT	XP_011531835.1:n.3790-80_3790-77delinsCCCT
XM_017006010.1:c.3790-80_3790-77delinsCCCT	XP_016861499.1:n.3790-80_3790-77delinsCCCT
XM_017006011.1:c.3769-80_3769-77delinsCCCT	XP_016861500.1:n.3769-80_3769-77delinsCCCT
XM_017006012.1:c.3709-80_3709-77delinsCCCT	XP_016861501.1:n.3709-80_3709-77delinsCCCT
XM_017006013.1:c.3790-80_3790-77delinsCCCT	XP_016861502.1:n.3790-80_3790-77delinsCCCT
XM_017006014.1:c.3688-80_3688-77delinsCCCT	XP_016861503.1:n.3688-80_3688-77delinsCCCT
XM_017006015.1:c.3421-80_3421-77delinsCCCT	XP_016861504.1:n.3421-80_3421-77delinsCCCT
XM_017006016.1:c.3250-80_3250-77delinsCCCT	XP_016861505.1:n.3250-80_3250-77delinsCCCT
XM_017006017.1:c.262-80_262-77delinsCCCT	XP_016861506.1:n.262-80_262-77delinsCCCT
XR_940397.2:n.3966-80_3966-77delinsCCCT
NM_001365116.2:c.3688-80_3688-77delinsCCCT	NP_001352045.1:n.3688-80_3688-77delinsCCCT
NM_015175.3:c.3790-80_3790-77delinsCCCT MANE Select	NP_055990.1:n.3790-80_3790-77delinsCCCT