Canonical Allele Identifier: CA2577587696

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568467-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568472del , CM000665.2:g.48568472del	GRCh38
NC_000003.11:g.48605905del , CM000665.1:g.48605905del	GRCh37
NC_000003.10:g.48580909del	NCBI36
NG_007065.1:g.31785del , LRG_286:g.31785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+31del MANE Select	ENSP00000506558.1:n.7794+31del
ENST00000328333.12:c.7794+31del	ENSP00000332371.8:n.7794+31del
ENST00000459756.5:n.617+31del
ENST00000467985.1:n.640+31del
ENST00000487017.5:n.4433+31del
NM_000094.3:c.7794+31del , LRG_286t1:c.7794+31del	NP_000085.1:n.7794+31del
XM_011533336.1:c.7821+31del	XP_011531638.1:n.7821+31del
XM_011533337.1:c.7794+31del	XP_011531639.1:n.7794+31del
XM_011533338.1:c.7761+31del	XP_011531640.1:n.7761+31del
XM_011533339.1:c.7821+31del	XP_011531641.1:n.7821+31del
XR_940369.1:n.7857+31del
XR_940370.1:n.7857+31del
XR_940371.1:n.7857+31del
XR_940372.1:n.7831+31del
XM_017005688.1:c.7734+31del	XP_016861177.1:n.7734+31del
XM_017005689.1:c.7794+31del	XP_016861178.1:n.7794+31del
XR_001740003.1:n.7830+31del
XR_001740004.1:n.7830+31del
XR_001740005.1:n.7830+31del
XR_001740006.1:n.7804+31del
NM_000094.4:c.7794+31del MANE Select	NP_000085.1:n.7794+31del