Canonical Allele Identifier: CA1685998480

Gene: COL28A1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359924_7359927delinsCATA , CM000669.2:g.7359924_7359927delinsCATA	GRCh38
NC_000007.13:g.7399555_7399558delinsCATA , CM000669.1:g.7399555_7399558delinsCATA	GRCh37
NC_000007.12:g.7366080_7366083delinsCATA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399429.8:c.3205+463_3205+466delinsTATG MANE Select	ENSP00000382356.3:n.3205+463_3205+466delinsTATG
ENST00000399429.7:c.3205+463_3205+466delinsTATG	ENSP00000382356.3:n.3205+463_3205+466delinsTATG
ENST00000430711.5:c.256+463_256+466delinsTATG	ENSP00000413093.1:n.256+463_256+466delinsTATG
ENST00000453441.1:c.70+463_70+466delinsTATG	ENSP00000391380.1:n.70+463_70+466delinsTATG
NM_001037763.2:c.3205+463_3205+466delinsTATG	NP_001032852.2:n.3205+463_3205+466delinsTATG
XM_011515358.1:c.3205+463_3205+466delinsTATG	XP_011513660.1:n.3205+463_3205+466delinsTATG
XM_011515359.1:c.3205+463_3205+466delinsTATG	XP_011513661.1:n.3205+463_3205+466delinsTATG
XM_011515360.1:c.3205+463_3205+466delinsTATG	XP_011513662.1:n.3205+463_3205+466delinsTATG
XM_011515362.1:c.2056+463_2056+466delinsTATG	XP_011513664.1:n.2056+463_2056+466delinsTATG
XR_926936.1:n.3408+463_3408+466delinsTATG
XM_011515358.3:c.3205+463_3205+466delinsTATG	XP_011513660.1:n.3205+463_3205+466delinsTATG
XM_011515359.2:c.3205+463_3205+466delinsTATG	XP_011513661.1:n.3205+463_3205+466delinsTATG
XM_011515360.2:c.3205+463_3205+466delinsTATG	XP_011513662.1:n.3205+463_3205+466delinsTATG
XM_011515362.2:c.2056+463_2056+466delinsTATG	XP_011513664.1:n.2056+463_2056+466delinsTATG
XM_017012131.2:c.3205+463_3205+466delinsTATG	XP_016867620.1:n.3205+463_3205+466delinsTATG
XM_017012132.2:c.3205+463_3205+466delinsTATG	XP_016867621.1:n.3205+463_3205+466delinsTATG
XR_001744688.1:n.4831+463_4831+466delinsTATG
XR_926936.3:n.4607+463_4607+466delinsTATG
NM_001037763.3:c.3205+463_3205+466delinsTATG MANE Select	NP_001032852.2:n.3205+463_3205+466delinsTATG