Canonical Allele Identifier: CA2638681287
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199178del , CM000679.2:g.50199178del GRCh38
NC_000017.10:g.48276539del , CM000679.1:g.48276539del GRCh37
NC_000017.9:g.45631538del NCBI36
NG_007400.1:g.7467del , LRG_1:g.7467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.471+53del MANE Select ENSP00000225964.6:n.471+53del
ENST00000225964.9:c.471+53del ENSP00000225964.5:n.471+53del
NM_000088.3:c.471+53del , LRG_1t1:c.471+53del NP_000079.2:n.471+53del
XM_005257058.3:c.471+53del XP_005257115.2:n.471+53del
XM_005257059.3:c.471+53del XP_005257116.2:n.471+53del
XM_011524341.1:c.471+53del XP_011522643.1:n.471+53del
XM_005257058.4:c.471+53del XP_005257115.2:n.471+53del
XM_005257059.4:c.471+53del XP_005257116.2:n.471+53del
NM_000088.4:c.471+53del MANE Select NP_000079.2:n.471+53del