Canonical Allele Identifier: CA1098111228

Gene: COL28A1

Linked Data

• dbSNP Id: rs1780537910
• gnomAD v3: 7-7359671-AACCAGCAC-A
• gnomAD v4: 7-7359671-AACCAGCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359672_7359679del , CM000669.2:g.7359672_7359679del	GRCh38
NC_000007.13:g.7399303_7399310del , CM000669.1:g.7399303_7399310del	GRCh37
NC_000007.12:g.7365828_7365835del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399429.8:c.3205+711_3205+718del MANE Select	ENSP00000382356.3:n.3205+711_3205+718del
ENST00000399429.7:c.3205+711_3205+718del	ENSP00000382356.3:n.3205+711_3205+718del
ENST00000430711.5:c.256+711_256+718del	ENSP00000413093.1:n.256+711_256+718del
ENST00000453441.1:c.70+711_70+718del	ENSP00000391380.1:n.70+711_70+718del
NM_001037763.2:c.3205+711_3205+718del	NP_001032852.2:n.3205+711_3205+718del
XM_011515358.1:c.3205+711_3205+718del	XP_011513660.1:n.3205+711_3205+718del
XM_011515359.1:c.3205+711_3205+718del	XP_011513661.1:n.3205+711_3205+718del
XM_011515360.1:c.3205+711_3205+718del	XP_011513662.1:n.3205+711_3205+718del
XM_011515362.1:c.2056+711_2056+718del	XP_011513664.1:n.2056+711_2056+718del
XR_926936.1:n.3408+711_3408+718del
XM_011515358.3:c.3205+711_3205+718del	XP_011513660.1:n.3205+711_3205+718del
XM_011515359.2:c.3205+711_3205+718del	XP_011513661.1:n.3205+711_3205+718del
XM_011515360.2:c.3205+711_3205+718del	XP_011513662.1:n.3205+711_3205+718del
XM_011515362.2:c.2056+711_2056+718del	XP_011513664.1:n.2056+711_2056+718del
XM_017012131.2:c.3205+711_3205+718del	XP_016867620.1:n.3205+711_3205+718del
XM_017012132.2:c.3205+711_3205+718del	XP_016867621.1:n.3205+711_3205+718del
XR_001744688.1:n.4831+711_4831+718del
XR_926936.3:n.4607+711_4607+718del
NM_001037763.3:c.3205+711_3205+718del MANE Select	NP_001032852.2:n.3205+711_3205+718del