Canonical Allele Identifier: CA2625566421

Gene: NUMB

Linked Data

• gnomAD v4: 14-73276746-C-CCTGCCATCATCTACACCATTGAAAGCTGCAGAACCGTTGAGGTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73276747_73276792dup , CM000676.2:g.73276747_73276792dup	GRCh38
NC_000014.8:g.73743455_73743500dup , CM000676.1:g.73743455_73743500dup	GRCh37
NC_000014.7:g.72813208_72813253dup	NCBI36
NG_029061.2:g.186789_186834dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000555238.6:c.1742_1787dup MANE Select	ENSP00000451300.1:p.Leu597AlafsTer13
ENST00000355058.7:c.1742_1787dup	ENSP00000347169.3:p.Leu597AlafsTer13
ENST00000356296.8:c.1598_1643dup	ENSP00000348644.4:p.Leu549AlafsTer13
ENST00000359560.7:c.1709_1754dup	ENSP00000352563.3:p.Leu586AlafsTer13
ENST00000535282.5:c.1598_1643dup	ENSP00000441258.2:p.Leu549AlafsTer13
ENST00000544991.7:c.1157_1202dup	ENSP00000446001.3:p.Leu402AlafsTer13
ENST00000554521.6:c.1124_1169dup	ENSP00000450817.2:p.Leu391AlafsTer13
ENST00000554546.5:c.1565_1610dup	ENSP00000452416.1:p.Leu538AlafsTer13
ENST00000555238.5:c.1742_1787dup	ENSP00000451300.1:p.Leu597AlafsTer13
ENST00000555394.5:c.1598_1643dup	ENSP00000451625.1:p.Leu549AlafsTer13
ENST00000555738.6:c.1271_1316dup	ENSP00000452069.2:p.Leu440AlafsTer13
ENST00000556772.5:c.1310_1355dup	ENSP00000451513.1:p.Leu453AlafsTer13
ENST00000557597.5:c.1709_1754dup	ENSP00000451117.1:p.Leu586AlafsTer13
ENST00000559312.5:c.1157_1202dup	ENSP00000452888.1:p.Leu402AlafsTer13
ENST00000560335.5:c.1304_1349dup	ENSP00000453209.1:p.Leu451AlafsTer13
NM_001005743.1:c.1742_1787dup	NP_001005743.1:p.Leu597AlafsTer13
NM_001005744.1:c.1598_1643dup	NP_001005744.1:p.Leu549AlafsTer13
NM_001005745.1:c.1565_1610dup	NP_001005745.1:p.Leu538AlafsTer13
NM_003744.5:c.1709_1754dup	NP_003735.3:p.Leu586AlafsTer13
XM_005268142.3:c.1742_1787dup	XP_005268199.1:p.Leu597AlafsTer13
XM_005268144.3:c.1709_1754dup	XP_005268201.1:p.Leu586AlafsTer13
XM_005268145.3:c.1700_1745dup	XP_005268202.1:p.Leu583AlafsTer13
XM_005268146.3:c.1598_1643dup	XP_005268203.1:p.Leu549AlafsTer13
XM_011537253.1:c.1742_1787dup	XP_011535555.1:p.Leu597AlafsTer13
XM_011537254.1:c.1742_1787dup	XP_011535556.1:p.Leu597AlafsTer13
XM_011537255.1:c.1742_1787dup	XP_011535557.1:p.Leu597AlafsTer13
XM_011537256.1:c.1733_1778dup	XP_011535558.1:p.Leu594AlafsTer13
XM_011537257.1:c.1709_1754dup	XP_011535559.1:p.Leu586AlafsTer13
XM_011537258.1:c.1709_1754dup	XP_011535560.1:p.Leu586AlafsTer13
XM_011537259.1:c.1700_1745dup	XP_011535561.1:p.Leu583AlafsTer13
XM_011537260.1:c.1598_1643dup	XP_011535562.1:p.Leu549AlafsTer13
XM_011537261.1:c.1589_1634dup	XP_011535563.1:p.Leu546AlafsTer13
XM_011537262.1:c.1448_1493dup	XP_011535564.1:p.Leu499AlafsTer13
XM_011537263.1:c.1304_1349dup	XP_011535565.1:p.Leu451AlafsTer13
XM_011537264.1:c.1271_1316dup	XP_011535566.1:p.Leu440AlafsTer13
NM_001320114.1:c.1598_1643dup	NP_001307043.1:p.Leu549AlafsTer13
NM_001005743.2:c.1742_1787dup MANE Select	NP_001005743.1:p.Leu597AlafsTer13
NM_001005744.2:c.1598_1643dup	NP_001005744.1:p.Leu549AlafsTer13
NM_001005745.2:c.1565_1610dup	NP_001005745.1:p.Leu538AlafsTer13
NM_001320114.2:c.1598_1643dup	NP_001307043.1:p.Leu549AlafsTer13
NM_003744.6:c.1709_1754dup	NP_003735.3:p.Leu586AlafsTer13