Canonical Allele Identifier: CA2665493245

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000189-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000192_47000193del , CM000665.2:g.47000192_47000193del	GRCh38
NC_000003.11:g.47041682_47041683del , CM000665.1:g.47041682_47041683del	GRCh37
NC_000003.10:g.47016686_47016687del	NCBI36
NG_031914.1:g.25510_25511del , LRG_568:g.25510_25511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4093_4094del MANE Select	ENSP00000415034.2:p.Val1365ArgfsTer?
ENST00000651747.1:c.3991_3992del	ENSP00000499216.1:p.Val1331ArgfsTer?
ENST00000652744.1:n.430_431del
ENST00000416683.5:c.1960-4_1960-3del
ENST00000450053.7:c.4093_4094del	ENSP00000415034.2:p.Val1365ArgfsTer?
NM_015175.2:c.4093_4094del , LRG_568t1:c.4093_4094del	NP_055990.1:p.Val1365ArgfsTer?
XM_005264992.2:c.3991_3992del	XP_005265049.1:p.Val1331ArgfsTer?
XM_005264993.2:c.565_566del	XP_005265050.1:p.Val189ArgfsTer?
XM_006713072.2:c.4012_4013del	XP_006713135.1:p.Val1338ArgfsTer?
XM_011533532.1:c.4072_4073del	XP_011531834.1:p.Val1358ArgfsTer?
XM_011533533.1:c.4093_4094del	XP_011531835.1:p.Val1365ArgfsTer?
XM_011533534.1:c.3724_3725del	XP_011531836.1:p.Val1242ArgfsTer?
XM_011533535.1:c.3553_3554del	XP_011531837.1:p.Val1185ArgfsTer?
XM_011533536.1:c.3439_3440del	XP_011531838.1:p.Val1147ArgfsTer?
XM_011533537.1:c.3001_3002del	XP_011531839.1:p.Val1001ArgfsTer?
XR_940397.1:n.4269_4270del
XR_940398.1:n.4269_4270del
NM_001365116.1:c.3991_3992del	NP_001352045.1:p.Val1331ArgfsTer?
XM_006713072.3:c.4012_4013del	XP_006713135.1:p.Val1338ArgfsTer?
XM_011533533.2:c.4093_4094del	XP_011531835.1:p.Val1365ArgfsTer?
XM_017006010.1:c.4093_4094del	XP_016861499.1:p.Val1365ArgfsTer?
XM_017006011.1:c.4072_4073del	XP_016861500.1:p.Val1358ArgfsTer?
XM_017006012.1:c.4012_4013del	XP_016861501.1:p.Val1338ArgfsTer?
XM_017006013.1:c.4093_4094del	XP_016861502.1:p.Val1365ArgfsTer?
XM_017006014.1:c.3991_3992del	XP_016861503.1:p.Val1331ArgfsTer?
XM_017006015.1:c.3724_3725del	XP_016861504.1:p.Val1242ArgfsTer?
XM_017006016.1:c.3553_3554del	XP_016861505.1:p.Val1185ArgfsTer?
XM_017006017.1:c.565_566del	XP_016861506.1:p.Val189ArgfsTer?
XR_940397.2:n.4269_4270del
NM_001365116.2:c.3991_3992del	NP_001352045.1:p.Val1331ArgfsTer?
NM_015175.3:c.4093_4094del MANE Select	NP_055990.1:p.Val1365ArgfsTer?