Canonical Allele Identifier: CA1047545681

Gene: NBEAL2

Linked Data

• gnomAD v3: 3-47000631-A-ATTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC
• gnomAD v4: 3-47000631-A-ATTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000631_47000632insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC , CM000665.2:g.47000631_47000632insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	GRCh38
NC_000003.11:g.47042121_47042122insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC , CM000665.1:g.47042121_47042122insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	GRCh37
NC_000003.10:g.47017125_47017126insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	NCBI36
NG_031914.1:g.25949_25950insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC , LRG_568:g.25949_25950insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC MANE Select	ENSP00000415034.2:n.4305+227_4305+228insTTCCATTCCATTCCATTCCAT...
ENST00000651747.1:c.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	ENSP00000499216.1:n.4203+227_4203+228insTTCCATTCCATTCCATTCCAT...
ENST00000416683.5:c.2168+227_2168+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC
ENST00000450053.7:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	ENSP00000415034.2:n.4305+227_4305+228insTTCCATTCCATTCCATTCCAT...
NM_015175.2:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC , LRG_568t1:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	NP_055990.1:n.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTT...
XM_005264992.2:c.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_005265049.1:n.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCC...
XM_005264993.2:c.777+227_777+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_005265050.1:n.777+227_777+228insTTCCATTCCATTCCATTCCATTCCTT...
XM_006713072.2:c.4224+227_4224+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_006713135.1:n.4224+227_4224+228insTTCCATTCCATTCCATTCCATTCC...
XM_011533532.1:c.4284+227_4284+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_011531834.1:n.4284+227_4284+228insTTCCATTCCATTCCATTCCATTCC...
XM_011533533.1:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_011531835.1:n.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCC...
XM_011533534.1:c.3936+227_3936+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_011531836.1:n.3936+227_3936+228insTTCCATTCCATTCCATTCCATTCC...
XM_011533535.1:c.3765+227_3765+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_011531837.1:n.3765+227_3765+228insTTCCATTCCATTCCATTCCATTCC...
XM_011533536.1:c.3651+227_3651+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_011531838.1:n.3651+227_3651+228insTTCCATTCCATTCCATTCCATTCC...
XM_011533537.1:c.3213+227_3213+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_011531839.1:n.3213+227_3213+228insTTCCATTCCATTCCATTCCATTCC...
XR_940397.1:n.4481+227_4481+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC
XR_940398.1:n.4481+227_4481+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC
NM_001365116.1:c.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	NP_001352045.1:n.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCC...
XM_006713072.3:c.4224+227_4224+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_006713135.1:n.4224+227_4224+228insTTCCATTCCATTCCATTCCATTCC...
XM_011533533.2:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_011531835.1:n.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCC...
XM_017006010.1:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_016861499.1:n.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCC...
XM_017006011.1:c.4284+227_4284+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_016861500.1:n.4284+227_4284+228insTTCCATTCCATTCCATTCCATTCC...
XM_017006012.1:c.4224+227_4224+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_016861501.1:n.4224+227_4224+228insTTCCATTCCATTCCATTCCATTCC...
XM_017006013.1:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_016861502.1:n.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCC...
XM_017006014.1:c.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_016861503.1:n.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCC...
XM_017006015.1:c.3936+227_3936+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_016861504.1:n.3936+227_3936+228insTTCCATTCCATTCCATTCCATTCC...
XM_017006016.1:c.3765+227_3765+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_016861505.1:n.3765+227_3765+228insTTCCATTCCATTCCATTCCATTCC...
XM_017006017.1:c.777+227_777+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	XP_016861506.1:n.777+227_777+228insTTCCATTCCATTCCATTCCATTCCTT...
XR_940397.2:n.4481+227_4481+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC
NM_001365116.2:c.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC	NP_001352045.1:n.4203+227_4203+228insTTCCATTCCATTCCATTCCATTCC...
NM_015175.3:c.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTTCCATTCCATTCCACTC MANE Select	NP_055990.1:n.4305+227_4305+228insTTCCATTCCATTCCATTCCATTCCTTT...