Canonical Allele Identifier: CA964637043

Gene: NUMB

Linked Data

• gnomAD v3: 14-73276754-C-CGAG
• gnomAD v4: 14-73276754-C-CGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73276754_73276755insGAG , CM000676.2:g.73276754_73276755insGAG	GRCh38
NC_000014.8:g.73743462_73743463insGAG , CM000676.1:g.73743462_73743463insGAG	GRCh37
NC_000014.7:g.72813215_72813216insGAG	NCBI36
NG_029061.2:g.186826_186827insCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000555238.6:c.1779_1780insCTC MANE Select	ENSP00000451300.1:p.Asp593_Asp594insLeu
ENST00000355058.7:c.1779_1780insCTC	ENSP00000347169.3:p.Asp593_Asp594insLeu
ENST00000356296.8:c.1635_1636insCTC	ENSP00000348644.4:p.Asp545_Asp546insLeu
ENST00000359560.7:c.1746_1747insCTC	ENSP00000352563.3:p.Asp582_Asp583insLeu
ENST00000535282.5:c.1635_1636insCTC	ENSP00000441258.2:p.Asp545_Asp546insLeu
ENST00000544991.7:c.1194_1195insCTC	ENSP00000446001.3:p.Asp398_Asp399insLeu
ENST00000554521.6:c.1161_1162insCTC	ENSP00000450817.2:p.Asp387_Asp388insLeu
ENST00000554546.5:c.1602_1603insCTC	ENSP00000452416.1:p.Asp534_Asp535insLeu
ENST00000555238.5:c.1779_1780insCTC	ENSP00000451300.1:p.Asp593_Asp594insLeu
ENST00000555394.5:c.1635_1636insCTC	ENSP00000451625.1:p.Asp545_Asp546insLeu
ENST00000555738.6:c.1308_1309insCTC	ENSP00000452069.2:p.Asp436_Asp437insLeu
ENST00000556772.5:c.1347_1348insCTC	ENSP00000451513.1:p.Asp449_Asp450insLeu
ENST00000557597.5:c.1746_1747insCTC	ENSP00000451117.1:p.Asp582_Asp583insLeu
ENST00000559312.5:c.1194_1195insCTC	ENSP00000452888.1:p.Asp398_Asp399insLeu
ENST00000560335.5:c.1341_1342insCTC	ENSP00000453209.1:p.Asp447_Asp448insLeu
NM_001005743.1:c.1779_1780insCTC	NP_001005743.1:p.Asp593_Asp594insLeu
NM_001005744.1:c.1635_1636insCTC	NP_001005744.1:p.Asp545_Asp546insLeu
NM_001005745.1:c.1602_1603insCTC	NP_001005745.1:p.Asp534_Asp535insLeu
NM_003744.5:c.1746_1747insCTC	NP_003735.3:p.Asp582_Asp583insLeu
XM_005268142.3:c.1779_1780insCTC	XP_005268199.1:p.Asp593_Asp594insLeu
XM_005268144.3:c.1746_1747insCTC	XP_005268201.1:p.Asp582_Asp583insLeu
XM_005268145.3:c.1737_1738insCTC	XP_005268202.1:p.Asp579_Asp580insLeu
XM_005268146.3:c.1635_1636insCTC	XP_005268203.1:p.Asp545_Asp546insLeu
XM_011537253.1:c.1779_1780insCTC	XP_011535555.1:p.Asp593_Asp594insLeu
XM_011537254.1:c.1779_1780insCTC	XP_011535556.1:p.Asp593_Asp594insLeu
XM_011537255.1:c.1779_1780insCTC	XP_011535557.1:p.Asp593_Asp594insLeu
XM_011537256.1:c.1770_1771insCTC	XP_011535558.1:p.Asp590_Asp591insLeu
XM_011537257.1:c.1746_1747insCTC	XP_011535559.1:p.Asp582_Asp583insLeu
XM_011537258.1:c.1746_1747insCTC	XP_011535560.1:p.Asp582_Asp583insLeu
XM_011537259.1:c.1737_1738insCTC	XP_011535561.1:p.Asp579_Asp580insLeu
XM_011537260.1:c.1635_1636insCTC	XP_011535562.1:p.Asp545_Asp546insLeu
XM_011537261.1:c.1626_1627insCTC	XP_011535563.1:p.Asp542_Asp543insLeu
XM_011537262.1:c.1485_1486insCTC	XP_011535564.1:p.Asp495_Asp496insLeu
XM_011537263.1:c.1341_1342insCTC	XP_011535565.1:p.Asp447_Asp448insLeu
XM_011537264.1:c.1308_1309insCTC	XP_011535566.1:p.Asp436_Asp437insLeu
NM_001320114.1:c.1635_1636insCTC	NP_001307043.1:p.Asp545_Asp546insLeu
NM_001005743.2:c.1779_1780insCTC MANE Select	NP_001005743.1:p.Asp593_Asp594insLeu
NM_001005744.2:c.1635_1636insCTC	NP_001005744.1:p.Asp545_Asp546insLeu
NM_001005745.2:c.1602_1603insCTC	NP_001005745.1:p.Asp534_Asp535insLeu
NM_001320114.2:c.1635_1636insCTC	NP_001307043.1:p.Asp545_Asp546insLeu
NM_003744.6:c.1746_1747insCTC	NP_003735.3:p.Asp582_Asp583insLeu