Canonical Allele Identifier: CA2514761413
Gene: COL28A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7359658_7359659insG , CM000669.2:g.7359658_7359659insG GRCh38
NC_000007.13:g.7399289_7399290insG , CM000669.1:g.7399289_7399290insG GRCh37
NC_000007.12:g.7365814_7365815insG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000399429.8:c.3205+731_3205+732insC MANE Select ENSP00000382356.3:n.3205+731_3205+732insC
ENST00000399429.7:c.3205+731_3205+732insC ENSP00000382356.3:n.3205+731_3205+732insC
ENST00000430711.5:c.256+731_256+732insC ENSP00000413093.1:n.256+731_256+732insC
ENST00000453441.1:c.70+731_70+732insC ENSP00000391380.1:n.70+731_70+732insC
NM_001037763.2:c.3205+731_3205+732insC NP_001032852.2:n.3205+731_3205+732insC
XM_011515358.1:c.3205+731_3205+732insC XP_011513660.1:n.3205+731_3205+732insC
XM_011515359.1:c.3205+731_3205+732insC XP_011513661.1:n.3205+731_3205+732insC
XM_011515360.1:c.3205+731_3205+732insC XP_011513662.1:n.3205+731_3205+732insC
XM_011515362.1:c.2056+731_2056+732insC XP_011513664.1:n.2056+731_2056+732insC
XR_926936.1:n.3408+731_3408+732insC
XM_011515358.3:c.3205+731_3205+732insC XP_011513660.1:n.3205+731_3205+732insC
XM_011515359.2:c.3205+731_3205+732insC XP_011513661.1:n.3205+731_3205+732insC
XM_011515360.2:c.3205+731_3205+732insC XP_011513662.1:n.3205+731_3205+732insC
XM_011515362.2:c.2056+731_2056+732insC XP_011513664.1:n.2056+731_2056+732insC
XM_017012131.2:c.3205+731_3205+732insC XP_016867620.1:n.3205+731_3205+732insC
XM_017012132.2:c.3205+731_3205+732insC XP_016867621.1:n.3205+731_3205+732insC
XR_001744688.1:n.4831+731_4831+732insC
XR_926936.3:n.4607+731_4607+732insC
NM_001037763.3:c.3205+731_3205+732insC MANE Select NP_001032852.2:n.3205+731_3205+732insC