Canonical Allele Identifier: CA2336097121
Gene: NUMBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40682151A= , CM000681.2:g.40682151A= GRCh38
NC_000019.9:g.41188056A= , CM000681.1:g.41188056A= GRCh37
NC_000019.8:g.45879896A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000252891.8:c.399+577T= MANE Select ENSP00000252891.3:n.399+577T=
ENST00000540131.5:c.276+577T= ENSP00000442759.1:n.276+577T=
ENST00000593367.1:n.128+577T=
ENST00000595741.5:c.276+577T= ENSP00000470794.1:n.276+577T=
ENST00000598773.5:c.276+577T= ENSP00000469736.1:n.276+577T=
ENST00000598779.5:c.276+577T= ENSP00000472400.1:n.276+577T=
ENST00000599786.1:n.689+577T=
ENST00000600636.5:c.276+577T= ENSP00000471376.1:n.276+577T=
ENST00000600967.5:c.106+577T=
NM_001289979.1:c.276+577T= NP_001276908.1:n.276+577T=
NM_001289980.1:c.276+577T= NP_001276909.1:n.276+577T=
NM_004756.4:c.399+577T= NP_004747.1:n.399+577T=
XM_011527489.1:c.276+577T= XP_011525791.1:n.276+577T=
XM_011527490.1:c.276+577T= XP_011525792.1:n.276+577T=
XR_935869.1:n.357+577T=
NM_001289980.2:c.276+577T= NP_001276909.1:n.276+577T=
NM_004756.5:c.399+577T= MANE Select NP_004747.1:n.399+577T=
NM_001289979.2:c.276+577T= NP_001276908.1:n.276+577T=