Canonical Allele Identifier: CA1685998262

Gene: COL28A1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359829_7359830delinsCA , CM000669.2:g.7359829_7359830delinsCA	GRCh38
NC_000007.13:g.7399460_7399461delinsCA , CM000669.1:g.7399460_7399461delinsCA	GRCh37
NC_000007.12:g.7365985_7365986delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399429.8:c.3205+560_3205+561delinsTG MANE Select	ENSP00000382356.3:n.3205+560_3205+561delinsTG
ENST00000399429.7:c.3205+560_3205+561delinsTG	ENSP00000382356.3:n.3205+560_3205+561delinsTG
ENST00000430711.5:c.256+560_256+561delinsTG	ENSP00000413093.1:n.256+560_256+561delinsTG
ENST00000453441.1:c.70+560_70+561delinsTG	ENSP00000391380.1:n.70+560_70+561delinsTG
NM_001037763.2:c.3205+560_3205+561delinsTG	NP_001032852.2:n.3205+560_3205+561delinsTG
XM_011515358.1:c.3205+560_3205+561delinsTG	XP_011513660.1:n.3205+560_3205+561delinsTG
XM_011515359.1:c.3205+560_3205+561delinsTG	XP_011513661.1:n.3205+560_3205+561delinsTG
XM_011515360.1:c.3205+560_3205+561delinsTG	XP_011513662.1:n.3205+560_3205+561delinsTG
XM_011515362.1:c.2056+560_2056+561delinsTG	XP_011513664.1:n.2056+560_2056+561delinsTG
XR_926936.1:n.3408+560_3408+561delinsTG
XM_011515358.3:c.3205+560_3205+561delinsTG	XP_011513660.1:n.3205+560_3205+561delinsTG
XM_011515359.2:c.3205+560_3205+561delinsTG	XP_011513661.1:n.3205+560_3205+561delinsTG
XM_011515360.2:c.3205+560_3205+561delinsTG	XP_011513662.1:n.3205+560_3205+561delinsTG
XM_011515362.2:c.2056+560_2056+561delinsTG	XP_011513664.1:n.2056+560_2056+561delinsTG
XM_017012131.2:c.3205+560_3205+561delinsTG	XP_016867620.1:n.3205+560_3205+561delinsTG
XM_017012132.2:c.3205+560_3205+561delinsTG	XP_016867621.1:n.3205+560_3205+561delinsTG
XR_001744688.1:n.4831+560_4831+561delinsTG
XR_926936.3:n.4607+560_4607+561delinsTG
NM_001037763.3:c.3205+560_3205+561delinsTG MANE Select	NP_001032852.2:n.3205+560_3205+561delinsTG