Canonical Allele Identifier: CA2695214512
Gene: MEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64804524_64804540del , CM000673.2:g.64804524_64804540del GRCh38
NC_000011.9:g.64571996_64572012del , CM000673.1:g.64571996_64572012del GRCh37
NC_000011.8:g.64328572_64328588del NCBI36
NG_008929.1:g.11757_11773del , LRG_509:g.11757_11773del
NG_033040.1:g.3704_3720del

Transcript Alleles

HGVS Amino-acid change
ENST00000377313.7:c.1644_1660del ENSP00000366530.1:p.Pro549SerfsTer7
ENST00000394374.8:c.*937_*953del ENSP00000377899.4:n.*937_*953del
ENST00000394376.7:c.1620_1636del ENSP00000377901.3:p.Pro541SerfsTer7
ENST00000413626.2:c.1629_1645del ENSP00000411218.2:p.Pro544SerfsTer7
ENST00000424912.2:c.1629_1645del ENSP00000388016.2:p.Pro544SerfsTer7
ENST00000429702.6:c.1629_1645del ENSP00000402752.2:p.Pro544SerfsTer7
ENST00000672079.2:c.*725_*741del ENSP00000500905.2:n.*725_*741del
ENST00000710881.1:c.1644_1660del ENSP00000518530.1:p.Pro549SerfsTer7
ENST00000394376.6:c.971_987del
ENST00000478548.3:n.2122_2138del
ENST00000671939.2:n.1591_1607del
ENST00000671965.2:n.2011_2027del
ENST00000312049.11:c.1629_1645del ENSP00000308975.6:p.Pro544SerfsTer7
ENST00000315422.9:c.1629_1645del ENSP00000323747.4:p.Pro544SerfsTer7
ENST00000377313.6:c.1644_1660del ENSP00000366530.1:p.Pro549SerfsTer7
ENST00000440873.6:c.1629_1645del ENSP00000413944.2:p.Pro544SerfsTer7
ENST00000450708.7:c.1629_1645del MANE Select ENSP00000394933.3:p.Pro544SerfsTer7
ENST00000478548.2:n.2130_2146del
ENST00000671939.1:n.1906_1922del
ENST00000672304.1:c.1755_1771del ENSP00000500585.1:p.Pro586SerfsTer7
ENST00000312049.10:c.1629_1645del ENSP00000308975.6:p.Pro544SerfsTer7
ENST00000315422.8:c.1629_1645del ENSP00000323747.4:p.Pro544SerfsTer7
ENST00000337652.5:c.1644_1660del ENSP00000337088.1:p.Pro549SerfsTer7
ENST00000377313.5:c.1644_1660del ENSP00000366530.1:p.Pro549SerfsTer7
ENST00000377316.6:c.1464_1480del ENSP00000366533.1:p.Pro489SerfsTer7
ENST00000377321.5:c.1524_1540del ENSP00000366538.1:p.Pro509SerfsTer7
ENST00000377326.7:c.1629_1645del ENSP00000366543.3:p.Pro544SerfsTer7
ENST00000394374.6:c.1644_1660del ENSP00000377899.2:p.Pro549SerfsTer7
ENST00000394376.5:c.1644_1660del ENSP00000377901.1:p.Pro549SerfsTer7
ENST00000478548.1:n.1178_1194del
NM_000244.3:c.1644_1660del , LRG_509t1:c.1644_1660del NP_000235.2:p.Pro549SerfsTer7
NM_130799.2:c.1629_1645del , LRG_509t2:c.1629_1645del NP_570711.1:p.Pro544SerfsTer7
NM_130800.2:c.1644_1660del NP_570712.1:p.Pro549SerfsTer7
NM_130801.2:c.1644_1660del NP_570713.1:p.Pro549SerfsTer7
NM_130802.2:c.1644_1660del NP_570714.1:p.Pro549SerfsTer7
NM_130803.2:c.1644_1660del NP_570715.1:p.Pro549SerfsTer7
NM_130804.2:c.1644_1660del NP_570716.1:p.Pro549SerfsTer7
XM_005274001.3:c.1629_1645del XP_005274058.1:p.Pro544SerfsTer7
XM_011545040.1:c.1755_1771del XP_011543342.1:p.Pro586SerfsTer7
XM_011545041.1:c.1755_1771del XP_011543343.1:p.Pro586SerfsTer7
XM_011545042.1:c.1755_1771del XP_011543344.1:p.Pro586SerfsTer7
XM_005274001.4:c.1629_1645del XP_005274058.1:p.Pro544SerfsTer7
XM_011545041.2:c.1755_1771del XP_011543343.1:p.Pro586SerfsTer7
XM_011545042.3:c.1755_1771del XP_011543344.1:p.Pro586SerfsTer7
XM_017017765.1:c.1770_1786del XP_016873254.1:p.Pro591SerfsTer7
XM_017017766.1:c.1770_1786del XP_016873255.1:p.Pro591SerfsTer7
XM_017017767.2:c.1770_1786del XP_016873256.1:p.Pro591SerfsTer7
XM_017017768.1:c.1770_1786del XP_016873257.1:p.Pro591SerfsTer7
XM_017017769.1:c.1629_1645del XP_016873258.1:p.Pro544SerfsTer7
XM_017017770.2:c.1629_1645del XP_016873259.1:p.Pro544SerfsTer7
NM_001370251.1:c.1755_1771del NP_001357180.1:p.Pro586SerfsTer7
NM_001370259.2:c.1629_1645del MANE Select NP_001357188.2:p.Pro544SerfsTer7
NM_001370260.1:c.1629_1645del NP_001357189.1:p.Pro544SerfsTer7
NM_001370261.1:c.1629_1645del NP_001357190.1:p.Pro544SerfsTer7
NM_001370262.1:c.1524_1540del NP_001357191.1:p.Pro509SerfsTer7
NM_001370263.1:c.1524_1540del NP_001357192.1:p.Pro509SerfsTer7
NM_000244.4:c.1644_1660del NP_000235.3:p.Pro549SerfsTer7
NM_001370251.2:c.1755_1771del NP_001357180.2:p.Pro586SerfsTer7
NM_001370260.2:c.1629_1645del NP_001357189.2:p.Pro544SerfsTer7
NM_001370261.2:c.1629_1645del NP_001357190.2:p.Pro544SerfsTer7
NM_001370262.2:c.1524_1540del NP_001357191.2:p.Pro509SerfsTer7
NM_001370263.2:c.1524_1540del NP_001357192.2:p.Pro509SerfsTer7
NM_130799.3:c.1629_1645del NP_570711.2:p.Pro544SerfsTer7
NM_130800.3:c.1644_1660del NP_570712.2:p.Pro549SerfsTer7
NM_130801.3:c.1644_1660del NP_570713.2:p.Pro549SerfsTer7
NM_130802.3:c.1644_1660del NP_570714.2:p.Pro549SerfsTer7
NM_130803.3:c.1644_1660del NP_570715.2:p.Pro549SerfsTer7
NM_130804.3:c.1644_1660del NP_570716.2:p.Pro549SerfsTer7