Canonical Allele Identifier: CA2576666882
Community Standard Title: NM_024027.5(COLEC11):c.309del (p.Gly104ValfsTer29)
Gene: COLEC11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3640312del , CM000664.2:g.3640312del GRCh38
NC_000002.11:g.3687902del , CM000664.1:g.3687902del GRCh37
NC_000002.10:g.3665777del NCBI36
NG_031954.1:g.50481del , LRG_350:g.50481del

Transcript Alleles

HGVS Amino-acid Change
NM_024027.5:c.309del MANE Select NP_076932.1:p.Gly104ValfsTer29
ENST00000349077.9:c.309del MANE Select ENSP00000339168.4:p.Gly104ValfsTer29
NM_001255982.1:c.237del NP_001242911.1:p.Gly80ValfsTer29
NM_001255982.2:c.237del NP_001242911.1:p.Gly80ValfsTer29
NM_001255983.1:c.237del NP_001242912.1:p.Gly80ValfsTer29
NM_001255983.2:c.237del NP_001242912.1:p.Gly80ValfsTer29
NM_001255984.1:c.165del NP_001242913.1:p.Gly56ValfsTer29
NM_001255984.2:c.165del NP_001242913.1:p.Gly56ValfsTer29
NM_001255985.1:c.351del NP_001242914.1:p.Gly118ValfsTer29
NM_001255986.1:c.231del NP_001242915.1:p.Gly78ValfsTer29
NM_001255987.1:c.159del NP_001242916.1:p.Gly54ValfsTer29
NM_001255988.1:c.159del NP_001242917.1:p.Gly54ValfsTer29
NM_001255989.1:c.87del NP_001242918.1:p.Gly30ValfsTer29
NM_024027.4:c.309del , LRG_350t1:c.309del NP_076932.1:p.Gly104ValfsTer29
NM_199235.2:c.300del NP_954705.1:p.Gly101ValfsTer29
NM_199235.3:c.300del NP_954705.1:p.Gly101ValfsTer29
NR_045659.1:n.672del
NR_045659.2:n.392del
ENST00000236693.11:c.300del ENSP00000236693.7:p.Gly101ValfsTer29
ENST00000349077.8:c.309del ENSP00000339168.4:p.Gly104ValfsTer29
ENST00000382062.6:c.237del ENSP00000371494.2:p.Gly80ValfsTer29
ENST00000402794.4:c.159del ENSP00000384882.1:p.Gly54ValfsTer29
ENST00000402922.2:c.159del ENSP00000385653.1:p.Gly54ValfsTer29
ENST00000403096.7:c.231del ENSP00000385130.3:p.Gly78ValfsTer29
ENST00000404205.5:c.87del ENSP00000385827.1:p.Gly30ValfsTer29
ENST00000416132.5:c.309del ENSP00000410919.1:p.Gly104ValfsTer?
ENST00000418971.6:c.351del ENSP00000411770.2:p.Gly118ValfsTer29
ENST00000438814.5:c.351del ENSP00000393167.1:p.Gly118ValfsTer?
ENST00000460971.5:n.405del
ENST00000487365.5:n.477del
XM_005263853.3:c.279del XP_005263910.1:p.Gly94ValfsTer29
XM_005263853.4:c.279del XP_005263910.1:p.Gly94ValfsTer29
XM_006711897.2:c.279del XP_006711960.1:p.Gly94ValfsTer29
XM_006711897.3:c.279del XP_006711960.1:p.Gly94ValfsTer29