Canonical Allele Identifier: CA2509202346

Gene: NUMBL

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40682216_40682217insGC , CM000681.2:g.40682216_40682217insGC	GRCh38
NC_000019.9:g.41188121_41188122insGC , CM000681.1:g.41188121_41188122insGC	GRCh37
NC_000019.8:g.45879961_45879962insGC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000252891.8:c.399+511_399+512insGC MANE Select	ENSP00000252891.3:n.399+511_399+512insGC
ENST00000540131.5:c.276+511_276+512insGC	ENSP00000442759.1:n.276+511_276+512insGC
ENST00000593367.1:n.128+511_128+512insGC
ENST00000595741.5:c.276+511_276+512insGC	ENSP00000470794.1:n.276+511_276+512insGC
ENST00000598773.5:c.276+511_276+512insGC	ENSP00000469736.1:n.276+511_276+512insGC
ENST00000598779.5:c.276+511_276+512insGC	ENSP00000472400.1:n.276+511_276+512insGC
ENST00000599786.1:n.689+511_689+512insGC
ENST00000600636.5:c.276+511_276+512insGC	ENSP00000471376.1:n.276+511_276+512insGC
ENST00000600967.5:c.106+511_106+512insGC
NM_001289979.1:c.276+511_276+512insGC	NP_001276908.1:n.276+511_276+512insGC
NM_001289980.1:c.276+511_276+512insGC	NP_001276909.1:n.276+511_276+512insGC
NM_004756.4:c.399+511_399+512insGC	NP_004747.1:n.399+511_399+512insGC
XM_011527489.1:c.276+511_276+512insGC	XP_011525791.1:n.276+511_276+512insGC
XM_011527490.1:c.276+511_276+512insGC	XP_011525792.1:n.276+511_276+512insGC
XR_935869.1:n.357+511_357+512insGC
NM_001289980.2:c.276+511_276+512insGC	NP_001276909.1:n.276+511_276+512insGC
NM_004756.5:c.399+511_399+512insGC MANE Select	NP_004747.1:n.399+511_399+512insGC
NM_001289979.2:c.276+511_276+512insGC	NP_001276908.1:n.276+511_276+512insGC