Canonical Allele Identifier: CA2576666883
Community Standard Title: NM_024027.5(COLEC11):c.311del (p.Gly104ValfsTer29)
Gene: COLEC11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3640314del , CM000664.2:g.3640314del GRCh38
NC_000002.11:g.3687904del , CM000664.1:g.3687904del GRCh37
NC_000002.10:g.3665779del NCBI36
NG_031954.1:g.50483del , LRG_350:g.50483del

Transcript Alleles

HGVS Amino-acid Change
NM_024027.5:c.311del MANE Select NP_076932.1:p.Gly104ValfsTer29
ENST00000349077.9:c.311del MANE Select ENSP00000339168.4:p.Gly104ValfsTer29
NM_001255982.1:c.239del NP_001242911.1:p.Gly80ValfsTer29
NM_001255982.2:c.239del NP_001242911.1:p.Gly80ValfsTer29
NM_001255983.1:c.239del NP_001242912.1:p.Gly80ValfsTer29
NM_001255983.2:c.239del NP_001242912.1:p.Gly80ValfsTer29
NM_001255984.1:c.167del NP_001242913.1:p.Gly56ValfsTer29
NM_001255984.2:c.167del NP_001242913.1:p.Gly56ValfsTer29
NM_001255985.1:c.353del NP_001242914.1:p.Gly118ValfsTer29
NM_001255986.1:c.233del NP_001242915.1:p.Gly78ValfsTer29
NM_001255987.1:c.161del NP_001242916.1:p.Gly54ValfsTer29
NM_001255988.1:c.161del NP_001242917.1:p.Gly54ValfsTer29
NM_001255989.1:c.89del NP_001242918.1:p.Gly30ValfsTer29
NM_024027.4:c.311del , LRG_350t1:c.311del NP_076932.1:p.Gly104ValfsTer29
NM_199235.2:c.302del NP_954705.1:p.Gly101ValfsTer29
NM_199235.3:c.302del NP_954705.1:p.Gly101ValfsTer29
NR_045659.1:n.674del
NR_045659.2:n.394del
ENST00000236693.11:c.302del ENSP00000236693.7:p.Gly101ValfsTer29
ENST00000349077.8:c.311del ENSP00000339168.4:p.Gly104ValfsTer29
ENST00000382062.6:c.239del ENSP00000371494.2:p.Gly80ValfsTer29
ENST00000402794.4:c.161del ENSP00000384882.1:p.Gly54ValfsTer29
ENST00000402922.2:c.161del ENSP00000385653.1:p.Gly54ValfsTer29
ENST00000403096.7:c.233del ENSP00000385130.3:p.Gly78ValfsTer29
ENST00000404205.5:c.89del ENSP00000385827.1:p.Gly30ValfsTer29
ENST00000416132.5:c.311del ENSP00000410919.1:p.Gly104ValfsTer?
ENST00000418971.6:c.353del ENSP00000411770.2:p.Gly118ValfsTer29
ENST00000438814.5:c.353del ENSP00000393167.1:p.Gly118ValfsTer?
ENST00000460971.5:n.407del
ENST00000487365.5:n.479del
XM_005263853.3:c.281del XP_005263910.1:p.Gly94ValfsTer29
XM_005263853.4:c.281del XP_005263910.1:p.Gly94ValfsTer29
XM_006711897.2:c.281del XP_006711960.1:p.Gly94ValfsTer29
XM_006711897.3:c.281del XP_006711960.1:p.Gly94ValfsTer29