Canonical Allele Identifier: CA1685998302

Gene: COL28A1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359849_7359850delinsTG , CM000669.2:g.7359849_7359850delinsTG	GRCh38
NC_000007.13:g.7399480_7399481delinsTG , CM000669.1:g.7399480_7399481delinsTG	GRCh37
NC_000007.12:g.7366005_7366006delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399429.8:c.3205+540_3205+541delinsCA MANE Select	ENSP00000382356.3:n.3205+540_3205+541delinsCA
ENST00000399429.7:c.3205+540_3205+541delinsCA	ENSP00000382356.3:n.3205+540_3205+541delinsCA
ENST00000430711.5:c.256+540_256+541delinsCA	ENSP00000413093.1:n.256+540_256+541delinsCA
ENST00000453441.1:c.70+540_70+541delinsCA	ENSP00000391380.1:n.70+540_70+541delinsCA
NM_001037763.2:c.3205+540_3205+541delinsCA	NP_001032852.2:n.3205+540_3205+541delinsCA
XM_011515358.1:c.3205+540_3205+541delinsCA	XP_011513660.1:n.3205+540_3205+541delinsCA
XM_011515359.1:c.3205+540_3205+541delinsCA	XP_011513661.1:n.3205+540_3205+541delinsCA
XM_011515360.1:c.3205+540_3205+541delinsCA	XP_011513662.1:n.3205+540_3205+541delinsCA
XM_011515362.1:c.2056+540_2056+541delinsCA	XP_011513664.1:n.2056+540_2056+541delinsCA
XR_926936.1:n.3408+540_3408+541delinsCA
XM_011515358.3:c.3205+540_3205+541delinsCA	XP_011513660.1:n.3205+540_3205+541delinsCA
XM_011515359.2:c.3205+540_3205+541delinsCA	XP_011513661.1:n.3205+540_3205+541delinsCA
XM_011515360.2:c.3205+540_3205+541delinsCA	XP_011513662.1:n.3205+540_3205+541delinsCA
XM_011515362.2:c.2056+540_2056+541delinsCA	XP_011513664.1:n.2056+540_2056+541delinsCA
XM_017012131.2:c.3205+540_3205+541delinsCA	XP_016867620.1:n.3205+540_3205+541delinsCA
XM_017012132.2:c.3205+540_3205+541delinsCA	XP_016867621.1:n.3205+540_3205+541delinsCA
XR_001744688.1:n.4831+540_4831+541delinsCA
XR_926936.3:n.4607+540_4607+541delinsCA
NM_001037763.3:c.3205+540_3205+541delinsCA MANE Select	NP_001032852.2:n.3205+540_3205+541delinsCA