Canonical Allele Identifier: CA204327447

Gene: NEBL

Linked Data

• dbSNP Id: rs796067329
• gnomAD v2: 10-21436057-A-AT
• gnomAD v3: 10-21147128-A-AT
• gnomAD v4: 10-21147128-A-AT
• MyVariant Identifiers: chr10:g.21436057_21436058insT (hg19) ; chr10:g.21147128_21147129insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.21147129dup , CM000672.2:g.21147129dup	GRCh38
NC_000010.10:g.21436058dup , CM000672.1:g.21436058dup	GRCh37
NC_000010.9:g.21476064dup	NCBI36
NG_017092.1:g.32059dup , LRG_411:g.32059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675700.1:n.187+25254dup
ENST00000675702.1:n.443+25254dup
ENST00000675747.1:n.224+25254dup
ENST00000417816.2:c.164+25254dup	ENSP00000393896.2:n.164+25254dup
NM_001173484.1:c.164+25254dup	NP_001166955.1:n.164+25254dup
NM_213569.2:c.164+25254dup , LRG_411t1:c.164+25254dup	NP_998734.1:n.164+25254dup
NM_001173484.2:c.164+25254dup	NP_001166955.1:n.164+25254dup
NM_001377322.1:c.164+25254dup	NP_001364251.1:n.164+25254dup
NM_001377323.1:c.116+25254dup	NP_001364252.1:n.116+25254dup
NM_001377324.1:c.107+25254dup	NP_001364253.1:n.107+25254dup
NM_001377325.1:c.98+25254dup	NP_001364254.1:n.98+25254dup
NM_001377326.1:c.56+25254dup	NP_001364255.1:n.56+25254dup
NM_001377327.1:c.56+25254dup	NP_001364256.1:n.56+25254dup
NM_001377328.1:c.56+25254dup	NP_001364257.1:n.56+25254dup