Canonical Allele Identifier: CA658822914

Gene: MEN1

Linked Data

• ClinVar Variation Id: 548825
• ClinVar RCV Id: RCV000662920
• dbSNP Id: rs1555164218
• MyVariant Identifiers: chr11:g.64572554_64572562del (hg19) ; chr11:g.64805082_64805090del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64805086_64805094del , CM000673.2:g.64805086_64805094del	GRCh38
NC_000011.9:g.64572558_64572566del , CM000673.1:g.64572558_64572566del	GRCh37
NC_000011.8:g.64329134_64329142del	NCBI36
NG_033040.1:g.3152_3160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377313.7:c.1309_1317del	ENSP00000366530.1:p.Leu437_Val439del
ENST00000394374.8:c.*602_*610del	ENSP00000377899.4:n.*602_*610del
ENST00000394376.7:c.1294_1302del	ENSP00000377901.3:p.Leu432_Val434del
ENST00000413626.2:c.1294_1302del	ENSP00000411218.2:p.Leu432_Val434del
ENST00000424912.2:c.1294_1302del	ENSP00000388016.2:p.Leu432_Val434del
ENST00000429702.6:c.1294_1302del	ENSP00000402752.2:p.Leu432_Val434del
ENST00000672079.2:c.*390_*398del	ENSP00000500905.2:n.*390_*398del
ENST00000710881.1:c.1309_1317del	ENSP00000518530.1:p.Leu437_Val439del
ENST00000394374.7:c.1041_1049del
ENST00000394376.6:c.645_653del
ENST00000478548.3:n.1787_1795del
ENST00000671939.2:n.1256_1264del
ENST00000671965.2:n.1676_1684del
ENST00000312049.11:c.1294_1302del	ENSP00000308975.6:p.Leu432_Val434del
ENST00000315422.9:c.1294_1302del	ENSP00000323747.4:p.Leu432_Val434del
ENST00000377313.6:c.1309_1317del	ENSP00000366530.1:p.Leu437_Val439del
ENST00000440873.6:c.1294_1302del	ENSP00000413944.2:p.Leu432_Val434del
ENST00000450708.7:c.1294_1302del MANE Select	ENSP00000394933.3:p.Leu432_Val434del
ENST00000478548.2:n.1795_1803del
ENST00000671939.1:n.1571_1579del
ENST00000672079.1:c.1169_1177del
ENST00000672304.1:c.1420_1428del	ENSP00000500585.1:p.Leu474_Val476del
ENST00000312049.10:c.1294_1302del	ENSP00000308975.6:p.Leu432_Val434del
ENST00000315422.8:c.1294_1302del	ENSP00000323747.4:p.Leu432_Val434del
ENST00000337652.5:c.1309_1317del	ENSP00000337088.1:p.Leu437_Val439del
ENST00000377313.5:c.1309_1317del	ENSP00000366530.1:p.Leu437_Val439del
ENST00000377316.6:c.1186-274_1186-266del	ENSP00000366533.1:n.1186-274_1186-266del
ENST00000377321.5:c.1189_1197del	ENSP00000366538.1:p.Leu397_Val399del
ENST00000377326.7:c.1294_1302del	ENSP00000366543.3:p.Leu432_Val434del
ENST00000394374.6:c.1309_1317del	ENSP00000377899.2:p.Leu437_Val439del
ENST00000394376.5:c.1309_1317del	ENSP00000377901.1:p.Leu437_Val439del
ENST00000478548.1:n.843_851del
XM_005274001.3:c.1294_1302del	XP_005274058.1:p.Leu432_Val434del
XM_011545040.1:c.1420_1428del	XP_011543342.1:p.Leu474_Val476del
XM_011545041.1:c.1420_1428del	XP_011543343.1:p.Leu474_Val476del
XM_011545042.1:c.1420_1428del	XP_011543344.1:p.Leu474_Val476del
XM_005274001.4:c.1294_1302del	XP_005274058.1:p.Leu432_Val434del
XM_011545041.2:c.1420_1428del	XP_011543343.1:p.Leu474_Val476del
XM_011545042.3:c.1420_1428del	XP_011543344.1:p.Leu474_Val476del
XM_017017765.1:c.1435_1443del	XP_016873254.1:p.Leu479_Val481del
XM_017017766.1:c.1435_1443del	XP_016873255.1:p.Leu479_Val481del
XM_017017767.2:c.1435_1443del	XP_016873256.1:p.Leu479_Val481del
XM_017017768.1:c.1435_1443del	XP_016873257.1:p.Leu479_Val481del
XM_017017769.1:c.1294_1302del	XP_016873258.1:p.Leu432_Val434del
XM_017017770.2:c.1294_1302del	XP_016873259.1:p.Leu432_Val434del
NM_001370259.2:c.1294_1302del MANE Select	NP_001357188.2:p.Leu432_Val434del
NM_000244.4:c.1309_1317del	NP_000235.3:p.Leu437_Val439del
NM_001370251.2:c.1420_1428del	NP_001357180.2:p.Leu474_Val476del
NM_001370260.2:c.1294_1302del	NP_001357189.2:p.Leu432_Val434del
NM_001370261.2:c.1294_1302del	NP_001357190.2:p.Leu432_Val434del
NM_001370262.2:c.1189_1197del	NP_001357191.2:p.Leu397_Val399del
NM_001370263.2:c.1189_1197del	NP_001357192.2:p.Leu397_Val399del
NM_130799.3:c.1294_1302del	NP_570711.2:p.Leu432_Val434del
NM_130800.3:c.1309_1317del	NP_570712.2:p.Leu437_Val439del
NM_130801.3:c.1309_1317del	NP_570713.2:p.Leu437_Val439del
NM_130802.3:c.1309_1317del	NP_570714.2:p.Leu437_Val439del
NM_130803.3:c.1309_1317del	NP_570715.2:p.Leu437_Val439del
NM_130804.3:c.1309_1317del	NP_570716.2:p.Leu437_Val439del