Canonical Allele Identifier: CA592022083

Gene: NEBL

Linked Data

• dbSNP Id: rs575290796
• gnomAD v2: 10-21436325-G-GTT
• gnomAD v3: 10-21147396-G-GTT
• gnomAD v4: 10-21147396-G-GTT
• MyVariant Identifiers: chr10:g.21436327_21436328insTT (hg19) ; chr10:g.21436325_21436326insTT (hg19) ; chr10:g.21147398_21147399insTT (hg38) ; chr10:g.21147396_21147397insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.21147414_21147415dup , CM000672.2:g.21147414_21147415dup	GRCh38
NC_000010.10:g.21436343_21436344dup , CM000672.1:g.21436343_21436344dup	GRCh37
NC_000010.9:g.21476349_21476350dup	NCBI36
NG_017092.1:g.31790_31791dup , LRG_411:g.31790_31791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675700.1:n.187+24985_187+24986dup
ENST00000675702.1:n.443+24985_443+24986dup
ENST00000675747.1:n.224+24985_224+24986dup
ENST00000417816.2:c.164+24985_164+24986dup	ENSP00000393896.2:n.164+24985_164+24986dup
NM_001173484.1:c.164+24985_164+24986dup	NP_001166955.1:n.164+24985_164+24986dup
NM_213569.2:c.164+24985_164+24986dup , LRG_411t1:c.164+24985_164+24986dup	NP_998734.1:n.164+24985_164+24986dup
NM_001173484.2:c.164+24985_164+24986dup	NP_001166955.1:n.164+24985_164+24986dup
NM_001377322.1:c.164+24985_164+24986dup	NP_001364251.1:n.164+24985_164+24986dup
NM_001377323.1:c.116+24985_116+24986dup	NP_001364252.1:n.116+24985_116+24986dup
NM_001377324.1:c.107+24985_107+24986dup	NP_001364253.1:n.107+24985_107+24986dup
NM_001377325.1:c.98+24985_98+24986dup	NP_001364254.1:n.98+24985_98+24986dup
NM_001377326.1:c.56+24985_56+24986dup	NP_001364255.1:n.56+24985_56+24986dup
NM_001377327.1:c.56+24985_56+24986dup	NP_001364256.1:n.56+24985_56+24986dup
NM_001377328.1:c.56+24985_56+24986dup	NP_001364257.1:n.56+24985_56+24986dup