Canonical Allele Identifier: CA1685998029

Gene: COL28A1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359668_7359669delinsCT , CM000669.2:g.7359668_7359669delinsCT	GRCh38
NC_000007.13:g.7399299_7399300delinsCT , CM000669.1:g.7399299_7399300delinsCT	GRCh37
NC_000007.12:g.7365824_7365825delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399429.8:c.3205+721_3205+722delinsAG MANE Select	ENSP00000382356.3:n.3205+721_3205+722delinsAG
ENST00000399429.7:c.3205+721_3205+722delinsAG	ENSP00000382356.3:n.3205+721_3205+722delinsAG
ENST00000430711.5:c.256+721_256+722delinsAG	ENSP00000413093.1:n.256+721_256+722delinsAG
ENST00000453441.1:c.70+721_70+722delinsAG	ENSP00000391380.1:n.70+721_70+722delinsAG
NM_001037763.2:c.3205+721_3205+722delinsAG	NP_001032852.2:n.3205+721_3205+722delinsAG
XM_011515358.1:c.3205+721_3205+722delinsAG	XP_011513660.1:n.3205+721_3205+722delinsAG
XM_011515359.1:c.3205+721_3205+722delinsAG	XP_011513661.1:n.3205+721_3205+722delinsAG
XM_011515360.1:c.3205+721_3205+722delinsAG	XP_011513662.1:n.3205+721_3205+722delinsAG
XM_011515362.1:c.2056+721_2056+722delinsAG	XP_011513664.1:n.2056+721_2056+722delinsAG
XR_926936.1:n.3408+721_3408+722delinsAG
XM_011515358.3:c.3205+721_3205+722delinsAG	XP_011513660.1:n.3205+721_3205+722delinsAG
XM_011515359.2:c.3205+721_3205+722delinsAG	XP_011513661.1:n.3205+721_3205+722delinsAG
XM_011515360.2:c.3205+721_3205+722delinsAG	XP_011513662.1:n.3205+721_3205+722delinsAG
XM_011515362.2:c.2056+721_2056+722delinsAG	XP_011513664.1:n.2056+721_2056+722delinsAG
XM_017012131.2:c.3205+721_3205+722delinsAG	XP_016867620.1:n.3205+721_3205+722delinsAG
XM_017012132.2:c.3205+721_3205+722delinsAG	XP_016867621.1:n.3205+721_3205+722delinsAG
XR_001744688.1:n.4831+721_4831+722delinsAG
XR_926936.3:n.4607+721_4607+722delinsAG
NM_001037763.3:c.3205+721_3205+722delinsAG MANE Select	NP_001032852.2:n.3205+721_3205+722delinsAG