Canonical Allele Identifier: CA2665493220

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-46995635-TGGGTGACTGCCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46995639_46995651del , CM000665.2:g.46995639_46995651del	GRCh38
NC_000003.11:g.47037129_47037141del , CM000665.1:g.47037129_47037141del	GRCh37
NC_000003.10:g.47012133_47012145del	NCBI36
NG_031914.1:g.20957_20969del , LRG_568:g.20957_20969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.1898+6_1898+18del MANE Select	ENSP00000415034.2:n.1898+6_1898+18del
ENST00000651747.1:c.1796+6_1796+18del	ENSP00000499216.1:n.1796+6_1796+18del
ENST00000416683.5:c.313+6_313+18del
ENST00000450053.7:c.1898+6_1898+18del	ENSP00000415034.2:n.1898+6_1898+18del
NM_015175.2:c.1898+6_1898+18del , LRG_568t1:c.1898+6_1898+18del	NP_055990.1:n.1898+6_1898+18del
XM_005264992.2:c.1796+6_1796+18del	XP_005265049.1:n.1796+6_1796+18del
XM_006713072.2:c.1817+6_1817+18del	XP_006713135.1:n.1817+6_1817+18del
XM_011533532.1:c.1877+6_1877+18del	XP_011531834.1:n.1877+6_1877+18del
XM_011533533.1:c.1898+6_1898+18del	XP_011531835.1:n.1898+6_1898+18del
XM_011533534.1:c.1529+6_1529+18del	XP_011531836.1:n.1529+6_1529+18del
XM_011533535.1:c.1358+6_1358+18del	XP_011531837.1:n.1358+6_1358+18del
XM_011533536.1:c.1244+6_1244+18del	XP_011531838.1:n.1244+6_1244+18del
XM_011533537.1:c.806+6_806+18del	XP_011531839.1:n.806+6_806+18del
XR_940397.1:n.2074+6_2074+18del
XR_940398.1:n.2074+6_2074+18del
NM_001365116.1:c.1796+6_1796+18del	NP_001352045.1:n.1796+6_1796+18del
XM_006713072.3:c.1817+6_1817+18del	XP_006713135.1:n.1817+6_1817+18del
XM_011533533.2:c.1898+6_1898+18del	XP_011531835.1:n.1898+6_1898+18del
XM_017006010.1:c.1898+6_1898+18del	XP_016861499.1:n.1898+6_1898+18del
XM_017006011.1:c.1877+6_1877+18del	XP_016861500.1:n.1877+6_1877+18del
XM_017006012.1:c.1817+6_1817+18del	XP_016861501.1:n.1817+6_1817+18del
XM_017006013.1:c.1898+6_1898+18del	XP_016861502.1:n.1898+6_1898+18del
XM_017006014.1:c.1796+6_1796+18del	XP_016861503.1:n.1796+6_1796+18del
XM_017006015.1:c.1529+6_1529+18del	XP_016861504.1:n.1529+6_1529+18del
XM_017006016.1:c.1358+6_1358+18del	XP_016861505.1:n.1358+6_1358+18del
XR_940397.2:n.2074+6_2074+18del
NM_001365116.2:c.1796+6_1796+18del	NP_001352045.1:n.1796+6_1796+18del
NM_015175.3:c.1898+6_1898+18del MANE Select	NP_055990.1:n.1898+6_1898+18del