Canonical Allele Identifier: CA184380442
Community Standard Title: NM_021110.4(COL14A1):c.2350-195_2350-189del
Gene: COL14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.120243684_120243690del , CM000670.2:g.120243684_120243690del GRCh38
NC_000008.10:g.121255923_121255929del , CM000670.1:g.121255923_121255929del GRCh37
NC_000008.9:g.121325104_121325110del NCBI36
NG_033107.1:g.123577_123583del

Transcript Alleles

HGVS Amino-acid Change
NM_021110.4:c.2350-195_2350-189del MANE Select NP_066933.1:n.2350-195_2350-189del
ENST00000297848.8:c.2350-195_2350-189del MANE Select ENSP00000297848.3:n.2350-195_2350-189del
NM_001384947.1:c.2350-195_2350-189del NP_001371876.1:n.2350-195_2350-189del
NM_021110.2:c.2350-195_2350-189del NP_066933.1:n.2350-195_2350-189del
NM_021110.3:c.2350-195_2350-189del NP_066933.1:n.2350-195_2350-189del
ENST00000297848.7:c.2350-195_2350-189del ENSP00000297848.3:n.2350-195_2350-189del
ENST00000309791.8:c.2350-195_2350-189del ENSP00000311809.4:n.2350-195_2350-189del
ENST00000432943.6:n.2584-195_2584-189del
ENST00000434620.5:c.1789-195_1789-189del ENSP00000409461.1:n.1789-195_1789-189del
XM_005251059.2:c.2350-195_2350-189del XP_005251116.1:n.2350-195_2350-189del
XM_005251059.4:c.2350-195_2350-189del XP_005251116.1:n.2350-195_2350-189del
XM_006716651.2:c.2350-195_2350-189del XP_006716714.1:n.2350-195_2350-189del
XM_006716651.3:c.2350-195_2350-189del XP_006716714.1:n.2350-195_2350-189del
XM_017013809.2:c.2350-195_2350-189del XP_016869298.1:n.2350-195_2350-189del