Canonical Allele Identifier: CA2665493247

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000247-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000247_47000248insA , CM000665.2:g.47000247_47000248insA	GRCh38
NC_000003.11:g.47041737_47041738insA , CM000665.1:g.47041737_47041738insA	GRCh37
NC_000003.10:g.47016741_47016742insA	NCBI36
NG_031914.1:g.25565_25566insA , LRG_568:g.25565_25566insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4148_4149insA MANE Select	ENSP00000415034.2:p.Ser1384GlnfsTer?
ENST00000651747.1:c.4046_4047insA	ENSP00000499216.1:p.Ser1350GlnfsTer?
ENST00000416683.5:c.2011_2012insA
ENST00000450053.7:c.4148_4149insA	ENSP00000415034.2:p.Ser1384GlnfsTer?
NM_015175.2:c.4148_4149insA , LRG_568t1:c.4148_4149insA	NP_055990.1:p.Ser1384GlnfsTer?
XM_005264992.2:c.4046_4047insA	XP_005265049.1:p.Ser1350GlnfsTer?
XM_005264993.2:c.620_621insA	XP_005265050.1:p.Ser208GlnfsTer?
XM_006713072.2:c.4067_4068insA	XP_006713135.1:p.Ser1357GlnfsTer?
XM_011533532.1:c.4127_4128insA	XP_011531834.1:p.Ser1377GlnfsTer?
XM_011533533.1:c.4148_4149insA	XP_011531835.1:p.Ser1384GlnfsTer?
XM_011533534.1:c.3779_3780insA	XP_011531836.1:p.Ser1261GlnfsTer?
XM_011533535.1:c.3608_3609insA	XP_011531837.1:p.Ser1204GlnfsTer?
XM_011533536.1:c.3494_3495insA	XP_011531838.1:p.Ser1166GlnfsTer?
XM_011533537.1:c.3056_3057insA	XP_011531839.1:p.Ser1020GlnfsTer?
XR_940397.1:n.4324_4325insA
XR_940398.1:n.4324_4325insA
NM_001365116.1:c.4046_4047insA	NP_001352045.1:p.Ser1350GlnfsTer?
XM_006713072.3:c.4067_4068insA	XP_006713135.1:p.Ser1357GlnfsTer?
XM_011533533.2:c.4148_4149insA	XP_011531835.1:p.Ser1384GlnfsTer?
XM_017006010.1:c.4148_4149insA	XP_016861499.1:p.Ser1384GlnfsTer?
XM_017006011.1:c.4127_4128insA	XP_016861500.1:p.Ser1377GlnfsTer?
XM_017006012.1:c.4067_4068insA	XP_016861501.1:p.Ser1357GlnfsTer?
XM_017006013.1:c.4148_4149insA	XP_016861502.1:p.Ser1384GlnfsTer?
XM_017006014.1:c.4046_4047insA	XP_016861503.1:p.Ser1350GlnfsTer?
XM_017006015.1:c.3779_3780insA	XP_016861504.1:p.Ser1261GlnfsTer?
XM_017006016.1:c.3608_3609insA	XP_016861505.1:p.Ser1204GlnfsTer?
XM_017006017.1:c.620_621insA	XP_016861506.1:p.Ser208GlnfsTer?
XR_940397.2:n.4324_4325insA
NM_001365116.2:c.4046_4047insA	NP_001352045.1:p.Ser1350GlnfsTer?
NM_015175.3:c.4148_4149insA MANE Select	NP_055990.1:p.Ser1384GlnfsTer?