Canonical Allele Identifier: CA1978886143

Gene: MEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64805081_64805090delinsCCACATGCAG , CM000673.2:g.64805081_64805090delinsCCACATGCAG	GRCh38
NC_000011.9:g.64572553_64572562delinsCCACATGCAG , CM000673.1:g.64572553_64572562delinsCCACATGCAG	GRCh37
NC_000011.8:g.64329129_64329138delinsCCACATGCAG	NCBI36
NG_033040.1:g.3152_3161delinsCTGCATGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377313.7:c.1309_1318delinsCTGCATGTGG	ENSP00000366530.1:p.Leu437=
ENST00000394374.8:c.*602_*611delinsCTGCATGTGG	ENSP00000377899.4:n.*602_*611delinsCTGCATGTGG
ENST00000394376.7:c.1294_1303delinsCTGCATGTGG	ENSP00000377901.3:p.Leu432=
ENST00000413626.2:c.1294_1303delinsCTGCATGTGG	ENSP00000411218.2:p.Leu432=
ENST00000424912.2:c.1294_1303delinsCTGCATGTGG	ENSP00000388016.2:p.Leu432=
ENST00000429702.6:c.1294_1303delinsCTGCATGTGG	ENSP00000402752.2:p.Leu432=
ENST00000672079.2:c.*390_*399delinsCTGCATGTGG	ENSP00000500905.2:n.*390_*399delinsCTGCATGTGG
ENST00000710881.1:c.1309_1318delinsCTGCATGTGG	ENSP00000518530.1:p.Leu437=
ENST00000394374.7:c.1041_1050delinsCTGCATGTGG
ENST00000394376.6:c.645_654delinsCTGCATGTGG
ENST00000478548.3:n.1787_1796delinsCTGCATGTGG
ENST00000671939.2:n.1256_1265delinsCTGCATGTGG
ENST00000671965.2:n.1676_1685delinsCTGCATGTGG
ENST00000312049.11:c.1294_1303delinsCTGCATGTGG	ENSP00000308975.6:p.Leu432=
ENST00000315422.9:c.1294_1303delinsCTGCATGTGG	ENSP00000323747.4:p.Leu432=
ENST00000377313.6:c.1309_1318delinsCTGCATGTGG	ENSP00000366530.1:p.Leu437=
ENST00000440873.6:c.1294_1303delinsCTGCATGTGG	ENSP00000413944.2:p.Leu432=
ENST00000450708.7:c.1294_1303delinsCTGCATGTGG MANE Select	ENSP00000394933.3:p.Leu432=
ENST00000478548.2:n.1795_1804delinsCTGCATGTGG
ENST00000671939.1:n.1571_1580delinsCTGCATGTGG
ENST00000672079.1:c.1169_1178delinsCTGCATGTGG
ENST00000672304.1:c.1420_1429delinsCTGCATGTGG	ENSP00000500585.1:p.Leu474=
ENST00000312049.10:c.1294_1303delinsCTGCATGTGG	ENSP00000308975.6:p.Leu432=
ENST00000315422.8:c.1294_1303delinsCTGCATGTGG	ENSP00000323747.4:p.Leu432=
ENST00000337652.5:c.1309_1318delinsCTGCATGTGG	ENSP00000337088.1:p.Leu437=
ENST00000377313.5:c.1309_1318delinsCTGCATGTGG	ENSP00000366530.1:p.Leu437=
ENST00000377316.6:c.1186-274_1186-265delinsCTGCATGTGG	ENSP00000366533.1:n.1186-274_1186-265delinsCTGCATGTGG
ENST00000377321.5:c.1189_1198delinsCTGCATGTGG	ENSP00000366538.1:p.Leu397=
ENST00000377326.7:c.1294_1303delinsCTGCATGTGG	ENSP00000366543.3:p.Leu432=
ENST00000394374.6:c.1309_1318delinsCTGCATGTGG	ENSP00000377899.2:p.Leu437=
ENST00000394376.5:c.1309_1318delinsCTGCATGTGG	ENSP00000377901.1:p.Leu437=
ENST00000478548.1:n.843_852delinsCTGCATGTGG
XM_005274001.3:c.1294_1303delinsCTGCATGTGG	XP_005274058.1:p.Leu432=
XM_011545040.1:c.1420_1429delinsCTGCATGTGG	XP_011543342.1:p.Leu474=
XM_011545041.1:c.1420_1429delinsCTGCATGTGG	XP_011543343.1:p.Leu474=
XM_011545042.1:c.1420_1429delinsCTGCATGTGG	XP_011543344.1:p.Leu474=
XM_005274001.4:c.1294_1303delinsCTGCATGTGG	XP_005274058.1:p.Leu432=
XM_011545041.2:c.1420_1429delinsCTGCATGTGG	XP_011543343.1:p.Leu474=
XM_011545042.3:c.1420_1429delinsCTGCATGTGG	XP_011543344.1:p.Leu474=
XM_017017765.1:c.1435_1444delinsCTGCATGTGG	XP_016873254.1:p.Leu479=
XM_017017766.1:c.1435_1444delinsCTGCATGTGG	XP_016873255.1:p.Leu479=
XM_017017767.2:c.1435_1444delinsCTGCATGTGG	XP_016873256.1:p.Leu479=
XM_017017768.1:c.1435_1444delinsCTGCATGTGG	XP_016873257.1:p.Leu479=
XM_017017769.1:c.1294_1303delinsCTGCATGTGG	XP_016873258.1:p.Leu432=
XM_017017770.2:c.1294_1303delinsCTGCATGTGG	XP_016873259.1:p.Leu432=
NM_001370259.2:c.1294_1303delinsCTGCATGTGG MANE Select	NP_001357188.2:p.Leu432=
NM_000244.4:c.1309_1318delinsCTGCATGTGG	NP_000235.3:p.Leu437=
NM_001370251.2:c.1420_1429delinsCTGCATGTGG	NP_001357180.2:p.Leu474=
NM_001370260.2:c.1294_1303delinsCTGCATGTGG	NP_001357189.2:p.Leu432=
NM_001370261.2:c.1294_1303delinsCTGCATGTGG	NP_001357190.2:p.Leu432=
NM_001370262.2:c.1189_1198delinsCTGCATGTGG	NP_001357191.2:p.Leu397=
NM_001370263.2:c.1189_1198delinsCTGCATGTGG	NP_001357192.2:p.Leu397=
NM_130799.3:c.1294_1303delinsCTGCATGTGG	NP_570711.2:p.Leu432=
NM_130800.3:c.1309_1318delinsCTGCATGTGG	NP_570712.2:p.Leu437=
NM_130801.3:c.1309_1318delinsCTGCATGTGG	NP_570713.2:p.Leu437=
NM_130802.3:c.1309_1318delinsCTGCATGTGG	NP_570714.2:p.Leu437=
NM_130803.3:c.1309_1318delinsCTGCATGTGG	NP_570715.2:p.Leu437=
NM_130804.3:c.1309_1318delinsCTGCATGTGG	NP_570716.2:p.Leu437=