Canonical Allele Identifier: CA917938760

Gene: COL28A1

Linked Data

• dbSNP Id: rs1583210640

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359966_7359967del , CM000669.2:g.7359966_7359967del	GRCh38
NC_000007.13:g.7399597_7399598del , CM000669.1:g.7399597_7399598del	GRCh37
NC_000007.12:g.7366122_7366123del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399429.8:c.3205+425_3205+426del MANE Select	ENSP00000382356.3:n.3205+425_3205+426del
ENST00000399429.7:c.3205+425_3205+426del	ENSP00000382356.3:n.3205+425_3205+426del
ENST00000430711.5:c.256+425_256+426del	ENSP00000413093.1:n.256+425_256+426del
ENST00000453441.1:c.70+425_70+426del	ENSP00000391380.1:n.70+425_70+426del
NM_001037763.2:c.3205+425_3205+426del	NP_001032852.2:n.3205+425_3205+426del
XM_011515358.1:c.3205+425_3205+426del	XP_011513660.1:n.3205+425_3205+426del
XM_011515359.1:c.3205+425_3205+426del	XP_011513661.1:n.3205+425_3205+426del
XM_011515360.1:c.3205+425_3205+426del	XP_011513662.1:n.3205+425_3205+426del
XM_011515362.1:c.2056+425_2056+426del	XP_011513664.1:n.2056+425_2056+426del
XR_926936.1:n.3408+425_3408+426del
XM_011515358.3:c.3205+425_3205+426del	XP_011513660.1:n.3205+425_3205+426del
XM_011515359.2:c.3205+425_3205+426del	XP_011513661.1:n.3205+425_3205+426del
XM_011515360.2:c.3205+425_3205+426del	XP_011513662.1:n.3205+425_3205+426del
XM_011515362.2:c.2056+425_2056+426del	XP_011513664.1:n.2056+425_2056+426del
XM_017012131.2:c.3205+425_3205+426del	XP_016867620.1:n.3205+425_3205+426del
XM_017012132.2:c.3205+425_3205+426del	XP_016867621.1:n.3205+425_3205+426del
XR_001744688.1:n.4831+425_4831+426del
XR_926936.3:n.4607+425_4607+426del
NM_001037763.3:c.3205+425_3205+426del MANE Select	NP_001032852.2:n.3205+425_3205+426del