Canonical Allele Identifier: CA2665620169

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568819-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568821del , CM000665.2:g.48568821del	GRCh38
NC_000003.11:g.48606254del , CM000665.1:g.48606254del	GRCh37
NC_000003.10:g.48581258del	NCBI36
NG_007065.1:g.31433del , LRG_286:g.31433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7722del MANE Select	ENSP00000506558.1:p.Leu2576CysfsTer?
ENST00000328333.12:c.7722del	ENSP00000332371.8:p.Leu2576CysfsTer?
ENST00000459756.5:n.545del
ENST00000467985.1:n.568del
ENST00000487017.5:n.4361del
NM_000094.3:c.7722del , LRG_286t1:c.7722del	NP_000085.1:p.Leu2576CysfsTer?
XM_011533336.1:c.7749del	XP_011531638.1:p.Leu2585CysfsTer?
XM_011533337.1:c.7722del	XP_011531639.1:p.Leu2576CysfsTer?
XM_011533338.1:c.7689del	XP_011531640.1:p.Leu2565CysfsTer?
XM_011533339.1:c.7749del	XP_011531641.1:p.Leu2585CysfsTer?
XR_940369.1:n.7785del
XR_940370.1:n.7785del
XR_940371.1:n.7785del
XR_940372.1:n.7759del
XM_017005688.1:c.7662del	XP_016861177.1:p.Leu2556CysfsTer?
XM_017005689.1:c.7722del	XP_016861178.1:p.Leu2576CysfsTer?
XR_001740003.1:n.7758del
XR_001740004.1:n.7758del
XR_001740005.1:n.7758del
XR_001740006.1:n.7732del
NM_000094.4:c.7722del MANE Select	NP_000085.1:p.Leu2576CysfsTer?