Canonical Allele Identifier: CA1047545682

Gene: NBEAL2

Linked Data

• gnomAD v3: 3-47000633-G-GGAGGATT
• gnomAD v4: 3-47000633-G-GGAGGATT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000633_47000634insGAGGATT , CM000665.2:g.47000633_47000634insGAGGATT	GRCh38
NC_000003.11:g.47042123_47042124insGAGGATT , CM000665.1:g.47042123_47042124insGAGGATT	GRCh37
NC_000003.10:g.47017127_47017128insGAGGATT	NCBI36
NG_031914.1:g.25951_25952insGAGGATT , LRG_568:g.25951_25952insGAGGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4305+229_4305+230insGAGGATT MANE Select	ENSP00000415034.2:n.4305+229_4305+230insGAGGATT
ENST00000651747.1:c.4203+229_4203+230insGAGGATT	ENSP00000499216.1:n.4203+229_4203+230insGAGGATT
ENST00000416683.5:c.2168+229_2168+230insGAGGATT
ENST00000450053.7:c.4305+229_4305+230insGAGGATT	ENSP00000415034.2:n.4305+229_4305+230insGAGGATT
NM_015175.2:c.4305+229_4305+230insGAGGATT , LRG_568t1:c.4305+229_4305+230insGAGGATT	NP_055990.1:n.4305+229_4305+230insGAGGATT
XM_005264992.2:c.4203+229_4203+230insGAGGATT	XP_005265049.1:n.4203+229_4203+230insGAGGATT
XM_005264993.2:c.777+229_777+230insGAGGATT	XP_005265050.1:n.777+229_777+230insGAGGATT
XM_006713072.2:c.4224+229_4224+230insGAGGATT	XP_006713135.1:n.4224+229_4224+230insGAGGATT
XM_011533532.1:c.4284+229_4284+230insGAGGATT	XP_011531834.1:n.4284+229_4284+230insGAGGATT
XM_011533533.1:c.4305+229_4305+230insGAGGATT	XP_011531835.1:n.4305+229_4305+230insGAGGATT
XM_011533534.1:c.3936+229_3936+230insGAGGATT	XP_011531836.1:n.3936+229_3936+230insGAGGATT
XM_011533535.1:c.3765+229_3765+230insGAGGATT	XP_011531837.1:n.3765+229_3765+230insGAGGATT
XM_011533536.1:c.3651+229_3651+230insGAGGATT	XP_011531838.1:n.3651+229_3651+230insGAGGATT
XM_011533537.1:c.3213+229_3213+230insGAGGATT	XP_011531839.1:n.3213+229_3213+230insGAGGATT
XR_940397.1:n.4481+229_4481+230insGAGGATT
XR_940398.1:n.4481+229_4481+230insGAGGATT
NM_001365116.1:c.4203+229_4203+230insGAGGATT	NP_001352045.1:n.4203+229_4203+230insGAGGATT
XM_006713072.3:c.4224+229_4224+230insGAGGATT	XP_006713135.1:n.4224+229_4224+230insGAGGATT
XM_011533533.2:c.4305+229_4305+230insGAGGATT	XP_011531835.1:n.4305+229_4305+230insGAGGATT
XM_017006010.1:c.4305+229_4305+230insGAGGATT	XP_016861499.1:n.4305+229_4305+230insGAGGATT
XM_017006011.1:c.4284+229_4284+230insGAGGATT	XP_016861500.1:n.4284+229_4284+230insGAGGATT
XM_017006012.1:c.4224+229_4224+230insGAGGATT	XP_016861501.1:n.4224+229_4224+230insGAGGATT
XM_017006013.1:c.4305+229_4305+230insGAGGATT	XP_016861502.1:n.4305+229_4305+230insGAGGATT
XM_017006014.1:c.4203+229_4203+230insGAGGATT	XP_016861503.1:n.4203+229_4203+230insGAGGATT
XM_017006015.1:c.3936+229_3936+230insGAGGATT	XP_016861504.1:n.3936+229_3936+230insGAGGATT
XM_017006016.1:c.3765+229_3765+230insGAGGATT	XP_016861505.1:n.3765+229_3765+230insGAGGATT
XM_017006017.1:c.777+229_777+230insGAGGATT	XP_016861506.1:n.777+229_777+230insGAGGATT
XR_940397.2:n.4481+229_4481+230insGAGGATT
NM_001365116.2:c.4203+229_4203+230insGAGGATT	NP_001352045.1:n.4203+229_4203+230insGAGGATT
NM_015175.3:c.4305+229_4305+230insGAGGATT MANE Select	NP_055990.1:n.4305+229_4305+230insGAGGATT