Canonical Allele Identifier: CA2843595764

Gene: NEBL

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.21147395G>T , CM000672.2:g.21147395G>T	GRCh38
NC_000010.10:g.21436324G>T , CM000672.1:g.21436324G>T	GRCh37
NC_000010.9:g.21476330G>T	NCBI36
NG_017092.1:g.31793C>A , LRG_411:g.31793C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675700.1:n.187+24988C>A
ENST00000675702.1:n.443+24988C>A
ENST00000675747.1:n.224+24988C>A
ENST00000417816.2:c.164+24988C>A	ENSP00000393896.2:n.164+24988C>A
NM_001173484.1:c.164+24988C>A	NP_001166955.1:n.164+24988C>A
NM_213569.2:c.164+24988C>A , LRG_411t1:c.164+24988C>A	NP_998734.1:n.164+24988C>A
NM_001173484.2:c.164+24988C>A	NP_001166955.1:n.164+24988C>A
NM_001377322.1:c.164+24988C>A	NP_001364251.1:n.164+24988C>A
NM_001377323.1:c.116+24988C>A	NP_001364252.1:n.116+24988C>A
NM_001377324.1:c.107+24988C>A	NP_001364253.1:n.107+24988C>A
NM_001377325.1:c.98+24988C>A	NP_001364254.1:n.98+24988C>A
NM_001377326.1:c.56+24988C>A	NP_001364255.1:n.56+24988C>A
NM_001377327.1:c.56+24988C>A	NP_001364256.1:n.56+24988C>A
NM_001377328.1:c.56+24988C>A	NP_001364257.1:n.56+24988C>A