Canonical Allele Identifier: CA1362360936

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46995657_46995662delinsGACCTC , CM000665.2:g.46995657_46995662delinsGACCTC	GRCh38
NC_000003.11:g.47037147_47037152delinsGACCTC , CM000665.1:g.47037147_47037152delinsGACCTC	GRCh37
NC_000003.10:g.47012151_47012156delinsGACCTC	NCBI36
NG_031914.1:g.20975_20980delinsGACCTC , LRG_568:g.20975_20980delinsGACCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.1898+24_1898+29delinsGACCTC MANE Select	ENSP00000415034.2:n.1898+24_1898+29delinsGACCTC
ENST00000651747.1:c.1796+24_1796+29delinsGACCTC	ENSP00000499216.1:n.1796+24_1796+29delinsGACCTC
ENST00000416683.5:c.313+24_313+29delinsGACCTC
ENST00000450053.7:c.1898+24_1898+29delinsGACCTC	ENSP00000415034.2:n.1898+24_1898+29delinsGACCTC
NM_015175.2:c.1898+24_1898+29delinsGACCTC , LRG_568t1:c.1898+24_1898+29delinsGACCTC	NP_055990.1:n.1898+24_1898+29delinsGACCTC
XM_005264992.2:c.1796+24_1796+29delinsGACCTC	XP_005265049.1:n.1796+24_1796+29delinsGACCTC
XM_006713072.2:c.1817+24_1817+29delinsGACCTC	XP_006713135.1:n.1817+24_1817+29delinsGACCTC
XM_011533532.1:c.1877+24_1877+29delinsGACCTC	XP_011531834.1:n.1877+24_1877+29delinsGACCTC
XM_011533533.1:c.1898+24_1898+29delinsGACCTC	XP_011531835.1:n.1898+24_1898+29delinsGACCTC
XM_011533534.1:c.1529+24_1529+29delinsGACCTC	XP_011531836.1:n.1529+24_1529+29delinsGACCTC
XM_011533535.1:c.1358+24_1358+29delinsGACCTC	XP_011531837.1:n.1358+24_1358+29delinsGACCTC
XM_011533536.1:c.1244+24_1244+29delinsGACCTC	XP_011531838.1:n.1244+24_1244+29delinsGACCTC
XM_011533537.1:c.806+24_806+29delinsGACCTC	XP_011531839.1:n.806+24_806+29delinsGACCTC
XR_940397.1:n.2074+24_2074+29delinsGACCTC
XR_940398.1:n.2074+24_2074+29delinsGACCTC
NM_001365116.1:c.1796+24_1796+29delinsGACCTC	NP_001352045.1:n.1796+24_1796+29delinsGACCTC
XM_006713072.3:c.1817+24_1817+29delinsGACCTC	XP_006713135.1:n.1817+24_1817+29delinsGACCTC
XM_011533533.2:c.1898+24_1898+29delinsGACCTC	XP_011531835.1:n.1898+24_1898+29delinsGACCTC
XM_017006010.1:c.1898+24_1898+29delinsGACCTC	XP_016861499.1:n.1898+24_1898+29delinsGACCTC
XM_017006011.1:c.1877+24_1877+29delinsGACCTC	XP_016861500.1:n.1877+24_1877+29delinsGACCTC
XM_017006012.1:c.1817+24_1817+29delinsGACCTC	XP_016861501.1:n.1817+24_1817+29delinsGACCTC
XM_017006013.1:c.1898+24_1898+29delinsGACCTC	XP_016861502.1:n.1898+24_1898+29delinsGACCTC
XM_017006014.1:c.1796+24_1796+29delinsGACCTC	XP_016861503.1:n.1796+24_1796+29delinsGACCTC
XM_017006015.1:c.1529+24_1529+29delinsGACCTC	XP_016861504.1:n.1529+24_1529+29delinsGACCTC
XM_017006016.1:c.1358+24_1358+29delinsGACCTC	XP_016861505.1:n.1358+24_1358+29delinsGACCTC
XR_940397.2:n.2074+24_2074+29delinsGACCTC
NM_001365116.2:c.1796+24_1796+29delinsGACCTC	NP_001352045.1:n.1796+24_1796+29delinsGACCTC
NM_015175.3:c.1898+24_1898+29delinsGACCTC MANE Select	NP_055990.1:n.1898+24_1898+29delinsGACCTC