Canonical Allele Identifier: CA2515549537
Gene: NUMBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40682219_40682220insCT , CM000681.2:g.40682219_40682220insCT GRCh38
NC_000019.9:g.41188124_41188125insCT , CM000681.1:g.41188124_41188125insCT GRCh37
NC_000019.8:g.45879964_45879965insCT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000252891.8:c.399+508_399+509insAG MANE Select ENSP00000252891.3:n.399+508_399+509insAG
ENST00000540131.5:c.276+508_276+509insAG ENSP00000442759.1:n.276+508_276+509insAG
ENST00000593367.1:n.128+508_128+509insAG
ENST00000595741.5:c.276+508_276+509insAG ENSP00000470794.1:n.276+508_276+509insAG
ENST00000598773.5:c.276+508_276+509insAG ENSP00000469736.1:n.276+508_276+509insAG
ENST00000598779.5:c.276+508_276+509insAG ENSP00000472400.1:n.276+508_276+509insAG
ENST00000599786.1:n.689+508_689+509insAG
ENST00000600636.5:c.276+508_276+509insAG ENSP00000471376.1:n.276+508_276+509insAG
ENST00000600967.5:c.106+508_106+509insAG
NM_001289979.1:c.276+508_276+509insAG NP_001276908.1:n.276+508_276+509insAG
NM_001289980.1:c.276+508_276+509insAG NP_001276909.1:n.276+508_276+509insAG
NM_004756.4:c.399+508_399+509insAG NP_004747.1:n.399+508_399+509insAG
XM_011527489.1:c.276+508_276+509insAG XP_011525791.1:n.276+508_276+509insAG
XM_011527490.1:c.276+508_276+509insAG XP_011525792.1:n.276+508_276+509insAG
XR_935869.1:n.357+508_357+509insAG
NM_001289980.2:c.276+508_276+509insAG NP_001276909.1:n.276+508_276+509insAG
NM_004756.5:c.399+508_399+509insAG MANE Select NP_004747.1:n.399+508_399+509insAG
NM_001289979.2:c.276+508_276+509insAG NP_001276908.1:n.276+508_276+509insAG