Canonical Allele Identifier: CA7258650

Gene: NUMB

Linked Data

• dbSNP Id: rs760667618
• ExAC: 14:73743458 CCAT / C
• gnomAD v2: 14-73743458-CCAT-C
• gnomAD v4: 14-73276750-CCAT-C
• MyVariant Identifiers: chr14:g.73743459_73743461del (hg19) ; chr14:g.73276751_73276753del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73276755_73276757del , CM000676.2:g.73276755_73276757del	GRCh38
NC_000014.8:g.73743463_73743465del , CM000676.1:g.73743463_73743465del	GRCh37
NC_000014.7:g.72813216_72813218del	NCBI36
NG_029061.2:g.186828_186830del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555238.6:c.1781_1783del MANE Select	ENSP00000451300.1:p.Asp594del
ENST00000355058.7:c.1781_1783del	ENSP00000347169.3:p.Asp594del
ENST00000356296.8:c.1637_1639del	ENSP00000348644.4:p.Asp546del
ENST00000359560.7:c.1748_1750del	ENSP00000352563.3:p.Asp583del
ENST00000535282.5:c.1637_1639del	ENSP00000441258.2:p.Asp546del
ENST00000544991.7:c.1196_1198del	ENSP00000446001.3:p.Asp399del
ENST00000554521.6:c.1163_1165del	ENSP00000450817.2:p.Asp388del
ENST00000554546.5:c.1604_1606del	ENSP00000452416.1:p.Asp535del
ENST00000555238.5:c.1781_1783del	ENSP00000451300.1:p.Asp594del
ENST00000555394.5:c.1637_1639del	ENSP00000451625.1:p.Asp546del
ENST00000555738.6:c.1310_1312del	ENSP00000452069.2:p.Asp437del
ENST00000556772.5:c.1349_1351del	ENSP00000451513.1:p.Asp450del
ENST00000557597.5:c.1748_1750del	ENSP00000451117.1:p.Asp583del
ENST00000559312.5:c.1196_1198del	ENSP00000452888.1:p.Asp399del
ENST00000560335.5:c.1343_1345del	ENSP00000453209.1:p.Asp448del
NM_001005743.1:c.1781_1783del	NP_001005743.1:p.Asp594del
NM_001005744.1:c.1637_1639del	NP_001005744.1:p.Asp546del
NM_001005745.1:c.1604_1606del	NP_001005745.1:p.Asp535del
NM_003744.5:c.1748_1750del	NP_003735.3:p.Asp583del
XM_005268142.3:c.1781_1783del	XP_005268199.1:p.Asp594del
XM_005268144.3:c.1748_1750del	XP_005268201.1:p.Asp583del
XM_005268145.3:c.1739_1741del	XP_005268202.1:p.Asp580del
XM_005268146.3:c.1637_1639del	XP_005268203.1:p.Asp546del
XM_011537253.1:c.1781_1783del	XP_011535555.1:p.Asp594del
XM_011537254.1:c.1781_1783del	XP_011535556.1:p.Asp594del
XM_011537255.1:c.1781_1783del	XP_011535557.1:p.Asp594del
XM_011537256.1:c.1772_1774del	XP_011535558.1:p.Asp591del
XM_011537257.1:c.1748_1750del	XP_011535559.1:p.Asp583del
XM_011537258.1:c.1748_1750del	XP_011535560.1:p.Asp583del
XM_011537259.1:c.1739_1741del	XP_011535561.1:p.Asp580del
XM_011537260.1:c.1637_1639del	XP_011535562.1:p.Asp546del
XM_011537261.1:c.1628_1630del	XP_011535563.1:p.Asp543del
XM_011537262.1:c.1487_1489del	XP_011535564.1:p.Asp496del
XM_011537263.1:c.1343_1345del	XP_011535565.1:p.Asp448del
XM_011537264.1:c.1310_1312del	XP_011535566.1:p.Asp437del
NM_001320114.1:c.1637_1639del	NP_001307043.1:p.Asp546del
NM_001005743.2:c.1781_1783del MANE Select	NP_001005743.1:p.Asp594del
NM_001005744.2:c.1637_1639del	NP_001005744.1:p.Asp546del
NM_001005745.2:c.1604_1606del	NP_001005745.1:p.Asp535del
NM_001320114.2:c.1637_1639del	NP_001307043.1:p.Asp546del
NM_003744.6:c.1748_1750del	NP_003735.3:p.Asp583del