Canonical Allele Identifier: CA2665493219

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000018-CCAGAGTCACCTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000020_47000031del , CM000665.2:g.47000020_47000031del	GRCh38
NC_000003.11:g.47041510_47041521del , CM000665.1:g.47041510_47041521del	GRCh37
NC_000003.10:g.47016514_47016525del	NCBI36
NG_031914.1:g.25338_25349del , LRG_568:g.25338_25349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3921_3932del MANE Select	ENSP00000415034.2:p.Glu1308_Thr1311del
ENST00000651747.1:c.3819_3830del	ENSP00000499216.1:p.Glu1274_Thr1277del
ENST00000652744.1:n.258_269del
ENST00000416683.5:c.1960-176_1960-165del
ENST00000450053.7:c.3921_3932del	ENSP00000415034.2:p.Glu1308_Thr1311del
NM_015175.2:c.3921_3932del , LRG_568t1:c.3921_3932del	NP_055990.1:p.Glu1308_Thr1311del
XM_005264992.2:c.3819_3830del	XP_005265049.1:p.Glu1274_Thr1277del
XM_005264993.2:c.393_404del	XP_005265050.1:p.Glu132_Thr135del
XM_006713072.2:c.3840_3851del	XP_006713135.1:p.Glu1281_Thr1284del
XM_011533532.1:c.3900_3911del	XP_011531834.1:p.Glu1301_Thr1304del
XM_011533533.1:c.3921_3932del	XP_011531835.1:p.Glu1308_Thr1311del
XM_011533534.1:c.3552_3563del	XP_011531836.1:p.Glu1185_Thr1188del
XM_011533535.1:c.3381_3392del	XP_011531837.1:p.Glu1128_Thr1131del
XM_011533536.1:c.3267_3278del	XP_011531838.1:p.Glu1090_Thr1093del
XM_011533537.1:c.2829_2840del	XP_011531839.1:p.Glu944_Thr947del
XR_940397.1:n.4097_4108del
XR_940398.1:n.4097_4108del
NM_001365116.1:c.3819_3830del	NP_001352045.1:p.Glu1274_Thr1277del
XM_006713072.3:c.3840_3851del	XP_006713135.1:p.Glu1281_Thr1284del
XM_011533533.2:c.3921_3932del	XP_011531835.1:p.Glu1308_Thr1311del
XM_017006010.1:c.3921_3932del	XP_016861499.1:p.Glu1308_Thr1311del
XM_017006011.1:c.3900_3911del	XP_016861500.1:p.Glu1301_Thr1304del
XM_017006012.1:c.3840_3851del	XP_016861501.1:p.Glu1281_Thr1284del
XM_017006013.1:c.3921_3932del	XP_016861502.1:p.Glu1308_Thr1311del
XM_017006014.1:c.3819_3830del	XP_016861503.1:p.Glu1274_Thr1277del
XM_017006015.1:c.3552_3563del	XP_016861504.1:p.Glu1185_Thr1188del
XM_017006016.1:c.3381_3392del	XP_016861505.1:p.Glu1128_Thr1131del
XM_017006017.1:c.393_404del	XP_016861506.1:p.Glu132_Thr135del
XR_940397.2:n.4097_4108del
NM_001365116.2:c.3819_3830del	NP_001352045.1:p.Glu1274_Thr1277del
NM_015175.3:c.3921_3932del MANE Select	NP_055990.1:p.Glu1308_Thr1311del