Canonical Allele Identifier: CA184389252
Gene: COL14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.120315390_120315393del , CM000670.2:g.120315390_120315393del GRCh38
NC_000008.10:g.121327629_121327632del , CM000670.1:g.121327629_121327632del GRCh37
NC_000008.9:g.121396810_121396813del NCBI36
NG_033107.1:g.195283_195286del

Transcript Alleles

HGVS Amino-acid Change
NM_021110.4:c.4552-143_4552-140del MANE Select NP_066933.1:n.4552-143_4552-140del
ENST00000297848.8:c.4552-143_4552-140del MANE Select ENSP00000297848.3:n.4552-143_4552-140del
NM_001384947.1:c.4552-143_4552-140del NP_001371876.1:n.4552-143_4552-140del
NM_021110.2:c.4552-143_4552-140del NP_066933.1:n.4552-143_4552-140del
NM_021110.3:c.4552-143_4552-140del NP_066933.1:n.4552-143_4552-140del
ENST00000247781.4:c.1435-143_1435-140del ENSP00000247781.4:n.1435-143_1435-140del
ENST00000297848.7:c.4552-143_4552-140del ENSP00000297848.3:n.4552-143_4552-140del
ENST00000309791.8:c.4552-143_4552-140del ENSP00000311809.4:n.4552-143_4552-140del
XM_005251059.2:c.4552-143_4552-140del XP_005251116.1:n.4552-143_4552-140del
XM_005251059.4:c.4552-143_4552-140del XP_005251116.1:n.4552-143_4552-140del
XM_006716651.2:c.4552-143_4552-140del XP_006716714.1:n.4552-143_4552-140del
XM_006716651.3:c.4552-143_4552-140del XP_006716714.1:n.4552-143_4552-140del
XM_017013809.2:c.4552-143_4552-140del XP_016869298.1:n.4552-143_4552-140del