Canonical Allele Identifier: CA1098111310
Gene: COL28A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7359854_7359855del , CM000669.2:g.7359854_7359855del GRCh38
NC_000007.13:g.7399485_7399486del , CM000669.1:g.7399485_7399486del GRCh37
NC_000007.12:g.7366010_7366011del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000399429.8:c.3205+535_3205+536del MANE Select ENSP00000382356.3:n.3205+535_3205+536del
ENST00000399429.7:c.3205+535_3205+536del ENSP00000382356.3:n.3205+535_3205+536del
ENST00000430711.5:c.256+535_256+536del ENSP00000413093.1:n.256+535_256+536del
ENST00000453441.1:c.70+535_70+536del ENSP00000391380.1:n.70+535_70+536del
NM_001037763.2:c.3205+535_3205+536del NP_001032852.2:n.3205+535_3205+536del
XM_011515358.1:c.3205+535_3205+536del XP_011513660.1:n.3205+535_3205+536del
XM_011515359.1:c.3205+535_3205+536del XP_011513661.1:n.3205+535_3205+536del
XM_011515360.1:c.3205+535_3205+536del XP_011513662.1:n.3205+535_3205+536del
XM_011515362.1:c.2056+535_2056+536del XP_011513664.1:n.2056+535_2056+536del
XR_926936.1:n.3408+535_3408+536del
XM_011515358.3:c.3205+535_3205+536del XP_011513660.1:n.3205+535_3205+536del
XM_011515359.2:c.3205+535_3205+536del XP_011513661.1:n.3205+535_3205+536del
XM_011515360.2:c.3205+535_3205+536del XP_011513662.1:n.3205+535_3205+536del
XM_011515362.2:c.2056+535_2056+536del XP_011513664.1:n.2056+535_2056+536del
XM_017012131.2:c.3205+535_3205+536del XP_016867620.1:n.3205+535_3205+536del
XM_017012132.2:c.3205+535_3205+536del XP_016867621.1:n.3205+535_3205+536del
XR_001744688.1:n.4831+535_4831+536del
XR_926936.3:n.4607+535_4607+536del
NM_001037763.3:c.3205+535_3205+536del MANE Select NP_001032852.2:n.3205+535_3205+536del