Canonical Allele Identifier: CA2146523411
Community Standard Title: NM_001005743.2(NUMB):c.1096+569A>C
Gene: NUMB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73281790T>G , CM000676.2:g.73281790T>G GRCh38
NC_000014.8:g.73748498T>G , CM000676.1:g.73748498T>G GRCh37
NC_000014.7:g.72818251T>G NCBI36
NG_029061.2:g.181791A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001005743.2:c.1096+569A>C MANE Select NP_001005743.1:n.1096+569A>C
ENST00000555238.6:c.1096+569A>C MANE Select ENSP00000451300.1:n.1096+569A>C
NM_001005743.1:c.1096+569A>C NP_001005743.1:n.1096+569A>C
NM_001005744.1:c.1096+569A>C NP_001005744.1:n.1096+569A>C
NM_001005744.2:c.1096+569A>C NP_001005744.1:n.1096+569A>C
NM_001005745.1:c.1063+569A>C NP_001005745.1:n.1063+569A>C
NM_001005745.2:c.1063+569A>C NP_001005745.1:n.1063+569A>C
NM_001320114.1:c.1096+569A>C NP_001307043.1:n.1096+569A>C
NM_001320114.2:c.1096+569A>C NP_001307043.1:n.1096+569A>C
NM_003744.5:c.1063+569A>C NP_003735.3:n.1063+569A>C
NM_003744.6:c.1063+569A>C NP_003735.3:n.1063+569A>C
ENST00000355058.7:c.1096+569A>C ENSP00000347169.3:n.1096+569A>C
ENST00000356296.8:c.1096+569A>C ENSP00000348644.4:n.1096+569A>C
ENST00000359560.7:c.1063+569A>C ENSP00000352563.3:n.1063+569A>C
ENST00000535282.5:c.1096+569A>C ENSP00000441258.2:n.1096+569A>C
ENST00000544991.7:c.656-4497A>C ENSP00000446001.3:n.656-4497A>C
ENST00000553997.5:n.590-253A>C
ENST00000554014.6:n.1629+569A>C
ENST00000554521.6:c.623-4497A>C ENSP00000450817.2:n.623-4497A>C
ENST00000554546.5:c.1063+569A>C ENSP00000452416.1:n.1063+569A>C
ENST00000555238.5:c.1096+569A>C ENSP00000451300.1:n.1096+569A>C
ENST00000555394.5:c.1096+569A>C ENSP00000451625.1:n.1096+569A>C
ENST00000555738.6:c.769+569A>C ENSP00000452069.2:n.769+569A>C
ENST00000556772.5:c.664+569A>C ENSP00000451513.1:n.664+569A>C
ENST00000557597.5:c.1063+569A>C ENSP00000451117.1:n.1063+569A>C
ENST00000559312.5:c.656-4497A>C ENSP00000452888.1:n.656-4497A>C
ENST00000560335.5:c.802+569A>C ENSP00000453209.1:n.802+569A>C
XM_005268142.3:c.1096+569A>C XP_005268199.1:n.1096+569A>C
XM_005268144.3:c.1063+569A>C XP_005268201.1:n.1063+569A>C
XM_005268145.3:c.1054+569A>C XP_005268202.1:n.1054+569A>C
XM_005268146.3:c.1096+569A>C XP_005268203.1:n.1096+569A>C
XM_011537253.1:c.1096+569A>C XP_011535555.1:n.1096+569A>C
XM_011537254.1:c.1096+569A>C XP_011535556.1:n.1096+569A>C
XM_011537255.1:c.1096+569A>C XP_011535557.1:n.1096+569A>C
XM_011537256.1:c.1087+569A>C XP_011535558.1:n.1087+569A>C
XM_011537257.1:c.1063+569A>C XP_011535559.1:n.1063+569A>C
XM_011537258.1:c.1063+569A>C XP_011535560.1:n.1063+569A>C
XM_011537259.1:c.1054+569A>C XP_011535561.1:n.1054+569A>C
XM_011537260.1:c.1096+569A>C XP_011535562.1:n.1096+569A>C
XM_011537261.1:c.1087+569A>C XP_011535563.1:n.1087+569A>C
XM_011537262.1:c.802+569A>C XP_011535564.1:n.802+569A>C
XM_011537263.1:c.802+569A>C XP_011535565.1:n.802+569A>C
XM_011537264.1:c.769+569A>C XP_011535566.1:n.769+569A>C