Canonical Allele Identifier: CA964647139

Gene: NUMB

Linked Data

• gnomAD v3: 14-73289516-CAT-C
• gnomAD v4: 14-73289516-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73289517_73289518del , CM000676.2:g.73289517_73289518del	GRCh38
NC_000014.8:g.73756225_73756226del , CM000676.1:g.73756225_73756226del	GRCh37
NC_000014.7:g.72825978_72825979del	NCBI36
NG_029061.2:g.174063_174064del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555238.6:c.451-2204_451-2203del MANE Select	ENSP00000451300.1:n.451-2204_451-2203del
ENST00000355058.7:c.451-2204_451-2203del	ENSP00000347169.3:n.451-2204_451-2203del
ENST00000356296.8:c.451-2204_451-2203del	ENSP00000348644.4:n.451-2204_451-2203del
ENST00000359560.7:c.418-2204_418-2203del	ENSP00000352563.3:n.418-2204_418-2203del
ENST00000535282.5:c.451-2204_451-2203del	ENSP00000441258.2:n.451-2204_451-2203del
ENST00000544991.7:c.451-2204_451-2203del	ENSP00000446001.3:n.451-2204_451-2203del
ENST00000554315.5:n.619-2204_619-2203del
ENST00000554394.5:c.451-2204_451-2203del	ENSP00000451374.1:n.451-2204_451-2203del
ENST00000554521.6:c.418-2204_418-2203del	ENSP00000450817.2:n.418-2204_418-2203del
ENST00000554546.5:c.418-2204_418-2203del	ENSP00000452416.1:n.418-2204_418-2203del
ENST00000555238.5:c.451-2204_451-2203del	ENSP00000451300.1:n.451-2204_451-2203del
ENST00000555307.5:c.451-2204_451-2203del	ENSP00000452357.1:n.451-2204_451-2203del
ENST00000555394.5:c.451-2204_451-2203del	ENSP00000451625.1:n.451-2204_451-2203del
ENST00000555738.6:c.418-2204_418-2203del	ENSP00000452069.2:n.418-2204_418-2203del
ENST00000555859.5:c.343-2204_343-2203del	ENSP00000451326.1:n.343-2204_343-2203del
ENST00000556772.5:c.19-2204_19-2203del	ENSP00000451513.1:n.19-2204_19-2203del
ENST00000556989.1:n.808-2204_808-2203del
ENST00000557597.5:c.418-2204_418-2203del	ENSP00000451117.1:n.418-2204_418-2203del
ENST00000559312.5:c.451-2204_451-2203del	ENSP00000452888.1:n.451-2204_451-2203del
ENST00000560335.5:c.451-2204_451-2203del	ENSP00000453209.1:n.451-2204_451-2203del
NM_001005743.1:c.451-2204_451-2203del	NP_001005743.1:n.451-2204_451-2203del
NM_001005744.1:c.451-2204_451-2203del	NP_001005744.1:n.451-2204_451-2203del
NM_001005745.1:c.418-2204_418-2203del	NP_001005745.1:n.418-2204_418-2203del
NM_003744.5:c.418-2204_418-2203del	NP_003735.3:n.418-2204_418-2203del
XM_005268142.3:c.451-2204_451-2203del	XP_005268199.1:n.451-2204_451-2203del
XM_005268144.3:c.418-2204_418-2203del	XP_005268201.1:n.418-2204_418-2203del
XM_005268145.3:c.418-2204_418-2203del	XP_005268202.1:n.418-2204_418-2203del
XM_005268146.3:c.451-2204_451-2203del	XP_005268203.1:n.451-2204_451-2203del
XM_011537253.1:c.451-2204_451-2203del	XP_011535555.1:n.451-2204_451-2203del
XM_011537254.1:c.451-2204_451-2203del	XP_011535556.1:n.451-2204_451-2203del
XM_011537255.1:c.451-2204_451-2203del	XP_011535557.1:n.451-2204_451-2203del
XM_011537256.1:c.451-2204_451-2203del	XP_011535558.1:n.451-2204_451-2203del
XM_011537257.1:c.418-2204_418-2203del	XP_011535559.1:n.418-2204_418-2203del
XM_011537258.1:c.418-2204_418-2203del	XP_011535560.1:n.418-2204_418-2203del
XM_011537259.1:c.418-2204_418-2203del	XP_011535561.1:n.418-2204_418-2203del
XM_011537260.1:c.451-2204_451-2203del	XP_011535562.1:n.451-2204_451-2203del
XM_011537261.1:c.451-2204_451-2203del	XP_011535563.1:n.451-2204_451-2203del
XM_011537262.1:c.451-2204_451-2203del	XP_011535564.1:n.451-2204_451-2203del
XM_011537263.1:c.451-2204_451-2203del	XP_011535565.1:n.451-2204_451-2203del
XM_011537264.1:c.418-2204_418-2203del	XP_011535566.1:n.418-2204_418-2203del
NM_001320114.1:c.451-2204_451-2203del	NP_001307043.1:n.451-2204_451-2203del
NM_001005743.2:c.451-2204_451-2203del MANE Select	NP_001005743.1:n.451-2204_451-2203del
NM_001005744.2:c.451-2204_451-2203del	NP_001005744.1:n.451-2204_451-2203del
NM_001005745.2:c.418-2204_418-2203del	NP_001005745.1:n.418-2204_418-2203del
NM_001320114.2:c.451-2204_451-2203del	NP_001307043.1:n.451-2204_451-2203del
NM_003744.6:c.418-2204_418-2203del	NP_003735.3:n.418-2204_418-2203del