Canonical Allele Identifier: CA1685997985

Gene: COL28A1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359652_7359654delinsCTT , CM000669.2:g.7359652_7359654delinsCTT	GRCh38
NC_000007.13:g.7399283_7399285delinsCTT , CM000669.1:g.7399283_7399285delinsCTT	GRCh37
NC_000007.12:g.7365808_7365810delinsCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399429.8:c.3205+736_3205+738delinsAAG MANE Select	ENSP00000382356.3:n.3205+736_3205+738delinsAAG
ENST00000399429.7:c.3205+736_3205+738delinsAAG	ENSP00000382356.3:n.3205+736_3205+738delinsAAG
ENST00000430711.5:c.256+736_256+738delinsAAG	ENSP00000413093.1:n.256+736_256+738delinsAAG
ENST00000453441.1:c.70+736_70+738delinsAAG	ENSP00000391380.1:n.70+736_70+738delinsAAG
NM_001037763.2:c.3205+736_3205+738delinsAAG	NP_001032852.2:n.3205+736_3205+738delinsAAG
XM_011515358.1:c.3205+736_3205+738delinsAAG	XP_011513660.1:n.3205+736_3205+738delinsAAG
XM_011515359.1:c.3205+736_3205+738delinsAAG	XP_011513661.1:n.3205+736_3205+738delinsAAG
XM_011515360.1:c.3205+736_3205+738delinsAAG	XP_011513662.1:n.3205+736_3205+738delinsAAG
XM_011515362.1:c.2056+736_2056+738delinsAAG	XP_011513664.1:n.2056+736_2056+738delinsAAG
XR_926936.1:n.3408+736_3408+738delinsAAG
XM_011515358.3:c.3205+736_3205+738delinsAAG	XP_011513660.1:n.3205+736_3205+738delinsAAG
XM_011515359.2:c.3205+736_3205+738delinsAAG	XP_011513661.1:n.3205+736_3205+738delinsAAG
XM_011515360.2:c.3205+736_3205+738delinsAAG	XP_011513662.1:n.3205+736_3205+738delinsAAG
XM_011515362.2:c.2056+736_2056+738delinsAAG	XP_011513664.1:n.2056+736_2056+738delinsAAG
XM_017012131.2:c.3205+736_3205+738delinsAAG	XP_016867620.1:n.3205+736_3205+738delinsAAG
XM_017012132.2:c.3205+736_3205+738delinsAAG	XP_016867621.1:n.3205+736_3205+738delinsAAG
XR_001744688.1:n.4831+736_4831+738delinsAAG
XR_926936.3:n.4607+736_4607+738delinsAAG
NM_001037763.3:c.3205+736_3205+738delinsAAG MANE Select	NP_001032852.2:n.3205+736_3205+738delinsAAG