Canonical Allele Identifier: CA4855067

Gene: COLEC10

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119067409_119067410del , CM000670.2:g.119067409_119067410del	GRCh38
NC_000008.10:g.120079648_120079649del , CM000670.1:g.120079648_120079649del	GRCh37
NC_000008.9:g.120148829_120148830del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006438.5:c.128_129del MANE Select	NP_006429.2:p.Thr43AsnfsTer9
ENST00000332843.3:c.128_129del MANE Select	ENSP00000332723.2:p.Thr43AsnfsTer9
NM_001324095.1:c.-59-22271_-59-22270del	NP_001311024.1:n.-59-22271_-59-22270del
NM_001324095.2:c.-59-22271_-59-22270del	NP_001311024.1:n.-59-22271_-59-22270del
NM_006438.3:c.128_129del	NP_006429.2:p.Thr43AsnfsTer9
NM_006438.4:c.128_129del	NP_006429.2:p.Thr43AsnfsTer9
NR_134297.1:n.1109+272_1109+273del
ENST00000332843.2:c.128_129del	ENSP00000332723.2:p.Thr43AsnfsTer9
ENST00000521788.1:n.236-22271_236-22270del
XM_005250756.2:c.-59-22271_-59-22270del	XP_005250813.1:n.-59-22271_-59-22270del
XM_005250756.3:c.-59-22271_-59-22270del	XP_005250813.1:n.-59-22271_-59-22270del
XM_011516795.1:c.-59-22271_-59-22270del	XP_011515097.1:n.-59-22271_-59-22270del
XR_242423.1:n.1109+272_1109+273del