Canonical Allele Identifier: CA841946394

Gene: COL28A1

Linked Data

• dbSNP Id: rs1259134554
• MyVariant Identifiers: chr7:g.7399478_7399479insTTTGT (hg19) ; chr7:g.7359847_7359848insTTTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359849_7359850insTGTTT , CM000669.2:g.7359849_7359850insTGTTT	GRCh38
NC_000007.13:g.7399480_7399481insTGTTT , CM000669.1:g.7399480_7399481insTGTTT	GRCh37
NC_000007.12:g.7366005_7366006insTGTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399429.8:c.3205+542_3205+543insACAAA MANE Select	ENSP00000382356.3:n.3205+542_3205+543insACAAA
ENST00000399429.7:c.3205+542_3205+543insACAAA	ENSP00000382356.3:n.3205+542_3205+543insACAAA
ENST00000430711.5:c.256+542_256+543insACAAA	ENSP00000413093.1:n.256+542_256+543insACAAA
ENST00000453441.1:c.70+542_70+543insACAAA	ENSP00000391380.1:n.70+542_70+543insACAAA
NM_001037763.2:c.3205+542_3205+543insACAAA	NP_001032852.2:n.3205+542_3205+543insACAAA
XM_011515358.1:c.3205+542_3205+543insACAAA	XP_011513660.1:n.3205+542_3205+543insACAAA
XM_011515359.1:c.3205+542_3205+543insACAAA	XP_011513661.1:n.3205+542_3205+543insACAAA
XM_011515360.1:c.3205+542_3205+543insACAAA	XP_011513662.1:n.3205+542_3205+543insACAAA
XM_011515362.1:c.2056+542_2056+543insACAAA	XP_011513664.1:n.2056+542_2056+543insACAAA
XR_926936.1:n.3408+542_3408+543insACAAA
XM_011515358.3:c.3205+542_3205+543insACAAA	XP_011513660.1:n.3205+542_3205+543insACAAA
XM_011515359.2:c.3205+542_3205+543insACAAA	XP_011513661.1:n.3205+542_3205+543insACAAA
XM_011515360.2:c.3205+542_3205+543insACAAA	XP_011513662.1:n.3205+542_3205+543insACAAA
XM_011515362.2:c.2056+542_2056+543insACAAA	XP_011513664.1:n.2056+542_2056+543insACAAA
XM_017012131.2:c.3205+542_3205+543insACAAA	XP_016867620.1:n.3205+542_3205+543insACAAA
XM_017012132.2:c.3205+542_3205+543insACAAA	XP_016867621.1:n.3205+542_3205+543insACAAA
XR_001744688.1:n.4831+542_4831+543insACAAA
XR_926936.3:n.4607+542_4607+543insACAAA
NM_001037763.3:c.3205+542_3205+543insACAAA MANE Select	NP_001032852.2:n.3205+542_3205+543insACAAA