Canonical Allele Identifier: CA530474271
Gene: COLEC11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3637571del , CM000664.2:g.3637571del GRCh38
NC_000002.11:g.3685161del , CM000664.1:g.3685161del GRCh37
NC_000002.10:g.3663036del NCBI36
NG_031954.1:g.47740del , LRG_350:g.47740del

Transcript Alleles

HGVS Amino-acid Change
ENST00000349077.9:c.241del MANE Select ENSP00000339168.4:p.Arg81ValfsTer20
ENST00000236693.11:c.232del ENSP00000236693.7:p.Arg78ValfsTer20
ENST00000349077.8:c.241del ENSP00000339168.4:p.Arg81ValfsTer20
ENST00000382062.6:c.203-2707del ENSP00000371494.2:n.203-2707del
ENST00000402794.4:c.91del ENSP00000384882.1:p.Arg31ValfsTer20
ENST00000402922.2:c.125-2707del ENSP00000385653.1:n.125-2707del
ENST00000403096.7:c.163del ENSP00000385130.3:p.Arg55ValfsTer20
ENST00000404205.5:c.53-2707del ENSP00000385827.1:n.53-2707del
ENST00000416132.5:c.241del ENSP00000410919.1:p.Arg81ValfsTer20
ENST00000418971.6:c.283del ENSP00000411770.2:p.Arg95ValfsTer20
ENST00000438814.5:c.283del ENSP00000393167.1:p.Arg95ValfsTer20
ENST00000460971.5:n.371-2707del
ENST00000487365.5:n.409del
NM_001255982.1:c.169del NP_001242911.1:p.Arg57ValfsTer20
NM_001255983.1:c.203-2707del NP_001242912.1:n.203-2707del
NM_001255984.1:c.131-2707del NP_001242913.1:n.131-2707del
NM_001255985.1:c.283del NP_001242914.1:p.Arg95ValfsTer20
NM_001255986.1:c.163del NP_001242915.1:p.Arg55ValfsTer20
NM_001255987.1:c.91del NP_001242916.1:p.Arg31ValfsTer20
NM_001255988.1:c.125-2707del NP_001242917.1:n.125-2707del
NM_001255989.1:c.53-2707del NP_001242918.1:n.53-2707del
NM_024027.4:c.241del , LRG_350t1:c.241del NP_076932.1:p.Arg81ValfsTer20
NM_199235.2:c.232del NP_954705.1:p.Arg78ValfsTer20
NR_045659.1:n.604del
XM_005263853.3:c.211del XP_005263910.1:p.Arg71ValfsTer20
XM_006711897.2:c.245-2707del XP_006711960.1:n.245-2707del
XM_005263853.4:c.211del XP_005263910.1:p.Arg71ValfsTer20
XM_006711897.3:c.245-2707del XP_006711960.1:n.245-2707del
NM_001255982.2:c.169del NP_001242911.1:p.Arg57ValfsTer20
NM_001255984.2:c.131-2707del NP_001242913.1:n.131-2707del
NM_024027.5:c.241del MANE Select NP_076932.1:p.Arg81ValfsTer20
NM_199235.3:c.232del NP_954705.1:p.Arg78ValfsTer20
NR_045659.2:n.324del
NM_001255983.2:c.203-2707del NP_001242912.1:n.203-2707del