Canonical Allele Identifier: CA543045739

Gene: COL7A1

Linked Data

• dbSNP Id: rs1192283857
• gnomAD v2: 3-48612480-AGGGATGGGGTGATCACCTTGGGGCCAGGG-A
• gnomAD v4: 3-48575047-AGGGATGGGGTGATCACCTTGGGGCCAGGG-A
• MyVariant Identifiers: chr3:g.48612481_48612509del (hg19) ; chr3:g.48575048_48575076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575050_48575078del , CM000665.2:g.48575050_48575078del	GRCh38
NC_000003.11:g.48612483_48612511del , CM000665.1:g.48612483_48612511del	GRCh37
NC_000003.10:g.48587487_48587515del	NCBI36
NG_007065.1:g.25177_25205del , LRG_286:g.25177_25205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6267_6279+16del
ENST00000328333.12:c.6267_6279+16del
ENST00000487017.5:n.2184_2196+16del
NM_000094.3:c.6267_6279+16del , LRG_286t1:c.6267_6279+16del
XM_011533336.1:c.6294_6306+16del
XM_011533337.1:c.6267_6279+16del
XM_011533338.1:c.6294_6306+16del
XM_011533339.1:c.6294_6306+16del
XM_011533340.1:c.6294_6306+16del
XM_011533341.1:c.6294_6306+16del
XM_011533342.1:c.6294_6306+16del
XR_940369.1:n.6330_6342+16del
XR_940370.1:n.6330_6342+16del
XR_940371.1:n.6330_6342+16del
XR_940372.1:n.6330_6342+16del
XR_940373.1:n.6330_6342+16del
XR_940374.1:n.6330_6342+16del
XR_940375.1:n.6268_6280+16del
XM_017005688.1:c.6267_6279+16del
XM_017005689.1:c.6267_6279+16del
XM_017005690.1:c.6267_6279+16del
XM_017005691.1:c.6267_6279+16del
XM_017005692.1:c.6267_6279+16del
XR_001740003.1:n.6303_6315+16del
XR_001740004.1:n.6303_6315+16del
XR_001740005.1:n.6303_6315+16del
XR_001740006.1:n.6303_6315+16del
XR_001740007.1:n.6303_6315+16del
XR_001740008.1:n.6303_6315+16del
XR_001740009.1:n.6241_6253+16del
NM_000094.4:c.6267_6279+16del