Canonical Allele Identifier: CA2665619625

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568427-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568428del , CM000665.2:g.48568428del	GRCh38
NC_000003.11:g.48605861del , CM000665.1:g.48605861del	GRCh37
NC_000003.10:g.48580865del	NCBI36
NG_007065.1:g.31825del , LRG_286:g.31825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+71del MANE Select	ENSP00000506558.1:n.7794+71del
ENST00000328333.12:c.7794+71del	ENSP00000332371.8:n.7794+71del
ENST00000459756.5:n.617+71del
ENST00000467985.1:n.640+71del
ENST00000487017.5:n.4433+71del
NM_000094.3:c.7794+71del , LRG_286t1:c.7794+71del	NP_000085.1:n.7794+71del
XM_011533336.1:c.7821+71del	XP_011531638.1:n.7821+71del
XM_011533337.1:c.7794+71del	XP_011531639.1:n.7794+71del
XM_011533338.1:c.7761+71del	XP_011531640.1:n.7761+71del
XM_011533339.1:c.7821+71del	XP_011531641.1:n.7821+71del
XR_940369.1:n.7857+71del
XR_940370.1:n.7857+71del
XR_940371.1:n.7857+71del
XR_940372.1:n.7831+71del
XM_017005688.1:c.7734+71del	XP_016861177.1:n.7734+71del
XM_017005689.1:c.7794+71del	XP_016861178.1:n.7794+71del
XR_001740003.1:n.7830+71del
XR_001740004.1:n.7830+71del
XR_001740005.1:n.7830+71del
XR_001740006.1:n.7804+71del
NM_000094.4:c.7794+71del MANE Select	NP_000085.1:n.7794+71del