Canonical Allele Identifier: CA5433380

Gene: NEBL

Linked Data

• dbSNP Id: rs779723453
• ExAC: 10:21185946 GCTTATAGAAGA / G
• gnomAD v4: 10-20897017-GCTTATAGAAGA-G
• MyVariant Identifiers: chr10:g.21185947_21185957del (hg19) ; chr10:g.20897018_20897028del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.20897019_20897029del , CM000672.2:g.20897019_20897029del	GRCh38
NC_000010.10:g.21185948_21185958del , CM000672.1:g.21185948_21185958del	GRCh37
NC_000010.9:g.21225954_21225964del	NCBI36
NG_017092.1:g.282160_282170del , LRG_411:g.282160_282170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377122.9:c.83_93del MANE Select	ENSP00000366326.4:p.Val28AlafsTer4
ENST00000674540.1:n.370_380del
ENST00000675114.1:n.565+64644_565+64654del
ENST00000675700.1:n.380+64644_380+64654del
ENST00000675702.1:n.636+64644_636+64654del
ENST00000675747.1:n.2445_2455del
ENST00000377119.5:n.93_103del
ENST00000377122.8:c.83_93del	ENSP00000366326.4:p.Val28AlafsTer4
ENST00000417816.2:c.357+64644_357+64654del	ENSP00000393896.2:n.357+64644_357+64654del
ENST00000434381.1:c.35_45del	ENSP00000396512.1:p.Val12AlafsTer4
NM_001173484.1:c.357+64644_357+64654del	NP_001166955.1:n.357+64644_357+64654del
NM_006393.2:c.83_93del , LRG_411t2:c.83_93del	NP_006384.1:p.Val28AlafsTer4
NM_213569.2:c.357+64644_357+64654del , LRG_411t1:c.357+64644_357+64654del	NP_998734.1:n.357+64644_357+64654del
XM_005252342.3:c.83_93del	XP_005252399.1:p.Val28AlafsTer4
XM_005252343.3:c.83_93del	XP_005252400.1:p.Val28AlafsTer4
XM_005252344.3:c.83_93del	XP_005252401.1:p.Val28AlafsTer4
XM_011519290.1:c.35_45del	XP_011517592.1:p.Val12AlafsTer4
XM_011519291.1:c.35_45del	XP_011517593.1:p.Val12AlafsTer4
XR_242691.3:n.195_205del
XM_005252342.5:c.83_93del	XP_005252399.1:p.Val28AlafsTer4
XM_005252343.5:c.83_93del	XP_005252400.1:p.Val28AlafsTer4
XM_005252344.5:c.83_93del	XP_005252401.1:p.Val28AlafsTer4
XM_011519291.2:c.35_45del	XP_011517593.1:p.Val12AlafsTer4
XM_017015468.1:c.35_45del	XP_016870957.1:p.Val12AlafsTer4
XR_001746995.2:n.1679_1689del
XR_001746996.1:n.398_408del
XR_242691.5:n.1679_1689del
NM_001173484.2:c.357+64644_357+64654del	NP_001166955.1:n.357+64644_357+64654del
NM_001377322.1:c.357+64644_357+64654del	NP_001364251.1:n.357+64644_357+64654del
NM_001377323.1:c.309+64644_309+64654del	NP_001364252.1:n.309+64644_309+64654del
NM_001377324.1:c.300+64644_300+64654del	NP_001364253.1:n.300+64644_300+64654del
NM_001377325.1:c.291+64644_291+64654del	NP_001364254.1:n.291+64644_291+64654del
NM_001377326.1:c.249+64644_249+64654del	NP_001364255.1:n.249+64644_249+64654del
NM_001377327.1:c.249+64644_249+64654del	NP_001364256.1:n.249+64644_249+64654del
NM_001377328.1:c.249+64644_249+64654del	NP_001364257.1:n.249+64644_249+64654del
NM_006393.3:c.83_93del MANE Select	NP_006384.1:p.Val28AlafsTer4