Canonical Allele Identifier: CA2665493215

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-46999949-T-TGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999950_46999953dup , CM000665.2:g.46999950_46999953dup	GRCh38
NC_000003.11:g.47041440_47041443dup , CM000665.1:g.47041440_47041443dup	GRCh37
NC_000003.10:g.47016444_47016447dup	NCBI36
NG_031914.1:g.25268_25271dup , LRG_568:g.25268_25271dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3851_3854dup MANE Select	ENSP00000415034.2:p.Asp1286AlafsTer?
ENST00000651747.1:c.3749_3752dup	ENSP00000499216.1:p.Asp1252AlafsTer?
ENST00000652744.1:n.188_191dup
ENST00000416683.5:c.1960-246_1960-243dup
ENST00000450053.7:c.3851_3854dup	ENSP00000415034.2:p.Asp1286AlafsTer?
NM_015175.2:c.3851_3854dup , LRG_568t1:c.3851_3854dup	NP_055990.1:p.Asp1286AlafsTer?
XM_005264992.2:c.3749_3752dup	XP_005265049.1:p.Asp1252AlafsTer?
XM_005264993.2:c.323_326dup	XP_005265050.1:p.Asp110AlafsTer?
XM_006713072.2:c.3770_3773dup	XP_006713135.1:p.Asp1259AlafsTer?
XM_011533532.1:c.3830_3833dup	XP_011531834.1:p.Asp1279AlafsTer?
XM_011533533.1:c.3851_3854dup	XP_011531835.1:p.Asp1286AlafsTer?
XM_011533534.1:c.3482_3485dup	XP_011531836.1:p.Asp1163AlafsTer?
XM_011533535.1:c.3311_3314dup	XP_011531837.1:p.Asp1106AlafsTer?
XM_011533536.1:c.3197_3200dup	XP_011531838.1:p.Asp1068AlafsTer?
XM_011533537.1:c.2759_2762dup	XP_011531839.1:p.Asp922AlafsTer?
XR_940397.1:n.4027_4030dup
XR_940398.1:n.4027_4030dup
NM_001365116.1:c.3749_3752dup	NP_001352045.1:p.Asp1252AlafsTer?
XM_006713072.3:c.3770_3773dup	XP_006713135.1:p.Asp1259AlafsTer?
XM_011533533.2:c.3851_3854dup	XP_011531835.1:p.Asp1286AlafsTer?
XM_017006010.1:c.3851_3854dup	XP_016861499.1:p.Asp1286AlafsTer?
XM_017006011.1:c.3830_3833dup	XP_016861500.1:p.Asp1279AlafsTer?
XM_017006012.1:c.3770_3773dup	XP_016861501.1:p.Asp1259AlafsTer?
XM_017006013.1:c.3851_3854dup	XP_016861502.1:p.Asp1286AlafsTer?
XM_017006014.1:c.3749_3752dup	XP_016861503.1:p.Asp1252AlafsTer?
XM_017006015.1:c.3482_3485dup	XP_016861504.1:p.Asp1163AlafsTer?
XM_017006016.1:c.3311_3314dup	XP_016861505.1:p.Asp1106AlafsTer?
XM_017006017.1:c.323_326dup	XP_016861506.1:p.Asp110AlafsTer?
XR_940397.2:n.4027_4030dup
NM_001365116.2:c.3749_3752dup	NP_001352045.1:p.Asp1252AlafsTer?
NM_015175.3:c.3851_3854dup MANE Select	NP_055990.1:p.Asp1286AlafsTer?