Canonical Allele Identifier: CA153482677

Gene: COL28A1

Linked Data

• dbSNP Id: rs933231937
• gnomAD v2: 7-7399268-CTTATATGTGATAAACT-C
• gnomAD v3: 7-7359637-CTTATATGTGATAAACT-C
• gnomAD v4: 7-7359637-CTTATATGTGATAAACT-C
• MyVariant Identifiers: chr7:g.7399269_7399284del (hg19) ; chr7:g.7359638_7359653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359642_7359657del , CM000669.2:g.7359642_7359657del	GRCh38
NC_000007.13:g.7399273_7399288del , CM000669.1:g.7399273_7399288del	GRCh37
NC_000007.12:g.7365798_7365813del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399429.8:c.3205+737_3205+752del MANE Select	ENSP00000382356.3:n.3205+737_3205+752del
ENST00000399429.7:c.3205+737_3205+752del	ENSP00000382356.3:n.3205+737_3205+752del
ENST00000430711.5:c.256+737_256+752del	ENSP00000413093.1:n.256+737_256+752del
ENST00000453441.1:c.70+737_70+752del	ENSP00000391380.1:n.70+737_70+752del
NM_001037763.2:c.3205+737_3205+752del	NP_001032852.2:n.3205+737_3205+752del
XM_011515358.1:c.3205+737_3205+752del	XP_011513660.1:n.3205+737_3205+752del
XM_011515359.1:c.3205+737_3205+752del	XP_011513661.1:n.3205+737_3205+752del
XM_011515360.1:c.3205+737_3205+752del	XP_011513662.1:n.3205+737_3205+752del
XM_011515362.1:c.2056+737_2056+752del	XP_011513664.1:n.2056+737_2056+752del
XR_926936.1:n.3408+737_3408+752del
XM_011515358.3:c.3205+737_3205+752del	XP_011513660.1:n.3205+737_3205+752del
XM_011515359.2:c.3205+737_3205+752del	XP_011513661.1:n.3205+737_3205+752del
XM_011515360.2:c.3205+737_3205+752del	XP_011513662.1:n.3205+737_3205+752del
XM_011515362.2:c.2056+737_2056+752del	XP_011513664.1:n.2056+737_2056+752del
XM_017012131.2:c.3205+737_3205+752del	XP_016867620.1:n.3205+737_3205+752del
XM_017012132.2:c.3205+737_3205+752del	XP_016867621.1:n.3205+737_3205+752del
XR_001744688.1:n.4831+737_4831+752del
XR_926936.3:n.4607+737_4607+752del
NM_001037763.3:c.3205+737_3205+752del MANE Select	NP_001032852.2:n.3205+737_3205+752del