Canonical Allele Identifier: CA2665618462

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48575052-TGGGGTGATCACCTTGGGGCCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575058_48575079del , CM000665.2:g.48575058_48575079del	GRCh38
NC_000003.11:g.48612491_48612512del , CM000665.1:g.48612491_48612512del	GRCh37
NC_000003.10:g.48587495_48587516del	NCBI36
NG_007065.1:g.25179_25200del , LRG_286:g.25179_25200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6269_6279+11del
ENST00000328333.12:c.6269_6279+11del
ENST00000487017.5:n.2186_2196+11del
NM_000094.3:c.6269_6279+11del , LRG_286t1:c.6269_6279+11del
XM_011533336.1:c.6296_6306+11del
XM_011533337.1:c.6269_6279+11del
XM_011533338.1:c.6296_6306+11del
XM_011533339.1:c.6296_6306+11del
XM_011533340.1:c.6296_6306+11del
XM_011533341.1:c.6296_6306+11del
XM_011533342.1:c.6296_6306+11del
XR_940369.1:n.6332_6342+11del
XR_940370.1:n.6332_6342+11del
XR_940371.1:n.6332_6342+11del
XR_940372.1:n.6332_6342+11del
XR_940373.1:n.6332_6342+11del
XR_940374.1:n.6332_6342+11del
XR_940375.1:n.6270_6280+11del
XM_017005688.1:c.6269_6279+11del
XM_017005689.1:c.6269_6279+11del
XM_017005690.1:c.6269_6279+11del
XM_017005691.1:c.6269_6279+11del
XM_017005692.1:c.6269_6279+11del
XR_001740003.1:n.6305_6315+11del
XR_001740004.1:n.6305_6315+11del
XR_001740005.1:n.6305_6315+11del
XR_001740006.1:n.6305_6315+11del
XR_001740007.1:n.6305_6315+11del
XR_001740008.1:n.6305_6315+11del
XR_001740009.1:n.6243_6253+11del
NM_000094.4:c.6269_6279+11del