Canonical Allele Identifier: CA2580084433
Gene: MEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2003707
ClinVar RCV Id: RCV002811383
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64804787_64804788insGGCCTCGGCCTCT , CM000673.2:g.64804787_64804788insGGCCTCGGCCTCT GRCh38
NC_000011.9:g.64572259_64572260insGGCCTCGGCCTCT , CM000673.1:g.64572259_64572260insGGCCTCGGCCTCT GRCh37
NC_000011.8:g.64328835_64328836insGGCCTCGGCCTCT NCBI36
NG_008929.1:g.11519_11520insCAGAGGCCGAGGC , LRG_509:g.11519_11520insCAGAGGCCGAGGC
NG_033040.1:g.3466_3467insCAGAGGCCGAGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000377313.7:c.1406_1407insCAGAGGCCGAGGC ENSP00000366530.1:p.Ala470ArgfsTer?
ENST00000394374.8:c.*699_*700insCAGAGGCCGAGGC ENSP00000377899.4:n.*699_*700insCAGAGGCCGAGGC
ENST00000394376.7:c.1382_1383insCAGAGGCCGAGGC ENSP00000377901.3:p.Ala462ArgfsTer?
ENST00000413626.2:c.1391_1392insCAGAGGCCGAGGC ENSP00000411218.2:p.Ala465ArgfsTer?
ENST00000424912.2:c.1391_1392insCAGAGGCCGAGGC ENSP00000388016.2:p.Ala465ArgfsTer?
ENST00000429702.6:c.1391_1392insCAGAGGCCGAGGC ENSP00000402752.2:p.Ala465ArgfsTer?
ENST00000672079.2:c.*487_*488insCAGAGGCCGAGGC ENSP00000500905.2:n.*487_*488insCAGAGGCCGAGGC
ENST00000710881.1:c.1406_1407insCAGAGGCCGAGGC ENSP00000518530.1:p.Ala470ArgfsTer?
ENST00000394374.7:c.1138_1139insCAGAGGCCGAGGC
ENST00000394376.6:c.733_734insCAGAGGCCGAGGC
ENST00000478548.3:n.1884_1885insCAGAGGCCGAGGC
ENST00000671939.2:n.1353_1354insCAGAGGCCGAGGC
ENST00000671965.2:n.1773_1774insCAGAGGCCGAGGC
ENST00000312049.11:c.1391_1392insCAGAGGCCGAGGC ENSP00000308975.6:p.Ala465ArgfsTer?
ENST00000315422.9:c.1391_1392insCAGAGGCCGAGGC ENSP00000323747.4:p.Ala465ArgfsTer?
ENST00000377313.6:c.1406_1407insCAGAGGCCGAGGC ENSP00000366530.1:p.Ala470ArgfsTer?
ENST00000440873.6:c.1391_1392insCAGAGGCCGAGGC ENSP00000413944.2:p.Ala465ArgfsTer?
ENST00000450708.7:c.1391_1392insCAGAGGCCGAGGC MANE Select ENSP00000394933.3:p.Ala465ArgfsTer?
ENST00000478548.2:n.1892_1893insCAGAGGCCGAGGC
ENST00000671939.1:n.1668_1669insCAGAGGCCGAGGC
ENST00000672304.1:c.1517_1518insCAGAGGCCGAGGC ENSP00000500585.1:p.Ala507ArgfsTer?
ENST00000312049.10:c.1391_1392insCAGAGGCCGAGGC ENSP00000308975.6:p.Ala465ArgfsTer?
ENST00000315422.8:c.1391_1392insCAGAGGCCGAGGC ENSP00000323747.4:p.Ala465ArgfsTer?
ENST00000337652.5:c.1406_1407insCAGAGGCCGAGGC ENSP00000337088.1:p.Ala470ArgfsTer?
ENST00000377313.5:c.1406_1407insCAGAGGCCGAGGC ENSP00000366530.1:p.Ala470ArgfsTer?
ENST00000377316.6:c.1226_1227insCAGAGGCCGAGGC ENSP00000366533.1:p.Ala410ArgfsTer?
ENST00000377321.5:c.1286_1287insCAGAGGCCGAGGC ENSP00000366538.1:p.Ala430ArgfsTer?
ENST00000377326.7:c.1391_1392insCAGAGGCCGAGGC ENSP00000366543.3:p.Ala465ArgfsTer?
ENST00000394374.6:c.1406_1407insCAGAGGCCGAGGC ENSP00000377899.2:p.Ala470ArgfsTer?
ENST00000394376.5:c.1406_1407insCAGAGGCCGAGGC ENSP00000377901.1:p.Ala470ArgfsTer?
ENST00000478548.1:n.940_941insCAGAGGCCGAGGC
NM_000244.3:c.1406_1407insCAGAGGCCGAGGC , LRG_509t1:c.1406_1407insCAGAGGCCGAGGC NP_000235.2:p.Ala470ArgfsTer?
NM_130799.2:c.1391_1392insCAGAGGCCGAGGC , LRG_509t2:c.1391_1392insCAGAGGCCGAGGC NP_570711.1:p.Ala465ArgfsTer?
NM_130800.2:c.1406_1407insCAGAGGCCGAGGC NP_570712.1:p.Ala470ArgfsTer?
NM_130801.2:c.1406_1407insCAGAGGCCGAGGC NP_570713.1:p.Ala470ArgfsTer?
NM_130802.2:c.1406_1407insCAGAGGCCGAGGC NP_570714.1:p.Ala470ArgfsTer?
NM_130803.2:c.1406_1407insCAGAGGCCGAGGC NP_570715.1:p.Ala470ArgfsTer?
NM_130804.2:c.1406_1407insCAGAGGCCGAGGC NP_570716.1:p.Ala470ArgfsTer?
XM_005274001.3:c.1391_1392insCAGAGGCCGAGGC XP_005274058.1:p.Ala465ArgfsTer?
XM_011545040.1:c.1517_1518insCAGAGGCCGAGGC XP_011543342.1:p.Ala507ArgfsTer?
XM_011545041.1:c.1517_1518insCAGAGGCCGAGGC XP_011543343.1:p.Ala507ArgfsTer?
XM_011545042.1:c.1517_1518insCAGAGGCCGAGGC XP_011543344.1:p.Ala507ArgfsTer?
XM_005274001.4:c.1391_1392insCAGAGGCCGAGGC XP_005274058.1:p.Ala465ArgfsTer?
XM_011545041.2:c.1517_1518insCAGAGGCCGAGGC XP_011543343.1:p.Ala507ArgfsTer?
XM_011545042.3:c.1517_1518insCAGAGGCCGAGGC XP_011543344.1:p.Ala507ArgfsTer?
XM_017017765.1:c.1532_1533insCAGAGGCCGAGGC XP_016873254.1:p.Ala512ArgfsTer?
XM_017017766.1:c.1532_1533insCAGAGGCCGAGGC XP_016873255.1:p.Ala512ArgfsTer?
XM_017017767.2:c.1532_1533insCAGAGGCCGAGGC XP_016873256.1:p.Ala512ArgfsTer?
XM_017017768.1:c.1532_1533insCAGAGGCCGAGGC XP_016873257.1:p.Ala512ArgfsTer?
XM_017017769.1:c.1391_1392insCAGAGGCCGAGGC XP_016873258.1:p.Ala465ArgfsTer?
XM_017017770.2:c.1391_1392insCAGAGGCCGAGGC XP_016873259.1:p.Ala465ArgfsTer?
NM_001370251.1:c.1517_1518insCAGAGGCCGAGGC NP_001357180.1:p.Ala507ArgfsTer?
NM_001370259.2:c.1391_1392insCAGAGGCCGAGGC MANE Select NP_001357188.2:p.Ala465ArgfsTer?
NM_001370260.1:c.1391_1392insCAGAGGCCGAGGC NP_001357189.1:p.Ala465ArgfsTer?
NM_001370261.1:c.1391_1392insCAGAGGCCGAGGC NP_001357190.1:p.Ala465ArgfsTer?
NM_001370262.1:c.1286_1287insCAGAGGCCGAGGC NP_001357191.1:p.Ala430ArgfsTer?
NM_001370263.1:c.1286_1287insCAGAGGCCGAGGC NP_001357192.1:p.Ala430ArgfsTer?
NM_000244.4:c.1406_1407insCAGAGGCCGAGGC NP_000235.3:p.Ala470ArgfsTer?
NM_001370251.2:c.1517_1518insCAGAGGCCGAGGC NP_001357180.2:p.Ala507ArgfsTer?
NM_001370260.2:c.1391_1392insCAGAGGCCGAGGC NP_001357189.2:p.Ala465ArgfsTer?
NM_001370261.2:c.1391_1392insCAGAGGCCGAGGC NP_001357190.2:p.Ala465ArgfsTer?
NM_001370262.2:c.1286_1287insCAGAGGCCGAGGC NP_001357191.2:p.Ala430ArgfsTer?
NM_001370263.2:c.1286_1287insCAGAGGCCGAGGC NP_001357192.2:p.Ala430ArgfsTer?
NM_130799.3:c.1391_1392insCAGAGGCCGAGGC NP_570711.2:p.Ala465ArgfsTer?
NM_130800.3:c.1406_1407insCAGAGGCCGAGGC NP_570712.2:p.Ala470ArgfsTer?
NM_130801.3:c.1406_1407insCAGAGGCCGAGGC NP_570713.2:p.Ala470ArgfsTer?
NM_130802.3:c.1406_1407insCAGAGGCCGAGGC NP_570714.2:p.Ala470ArgfsTer?
NM_130803.3:c.1406_1407insCAGAGGCCGAGGC NP_570715.2:p.Ala470ArgfsTer?
NM_130804.3:c.1406_1407insCAGAGGCCGAGGC NP_570716.2:p.Ala470ArgfsTer?
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