Canonical Allele Identifier: CA2665619552

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568376-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568377_48568378del , CM000665.2:g.48568377_48568378del	GRCh38
NC_000003.11:g.48605810_48605811del , CM000665.1:g.48605810_48605811del	GRCh37
NC_000003.10:g.48580814_48580815del	NCBI36
NG_007065.1:g.31875_31876del , LRG_286:g.31875_31876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+121_7794+122del MANE Select	ENSP00000506558.1:n.7794+121_7794+122del
ENST00000328333.12:c.7794+121_7794+122del	ENSP00000332371.8:n.7794+121_7794+122del
ENST00000459756.5:n.617+121_617+122del
ENST00000467985.1:n.640+121_640+122del
ENST00000487017.5:n.4433+121_4433+122del
NM_000094.3:c.7794+121_7794+122del , LRG_286t1:c.7794+121_7794+122del	NP_000085.1:n.7794+121_7794+122del
XM_011533336.1:c.7821+121_7821+122del	XP_011531638.1:n.7821+121_7821+122del
XM_011533337.1:c.7794+121_7794+122del	XP_011531639.1:n.7794+121_7794+122del
XM_011533338.1:c.7761+121_7761+122del	XP_011531640.1:n.7761+121_7761+122del
XM_011533339.1:c.7821+121_7821+122del	XP_011531641.1:n.7821+121_7821+122del
XR_940369.1:n.7857+121_7857+122del
XR_940370.1:n.7857+121_7857+122del
XR_940371.1:n.7857+121_7857+122del
XR_940372.1:n.7831+121_7831+122del
XM_017005688.1:c.7734+121_7734+122del	XP_016861177.1:n.7734+121_7734+122del
XM_017005689.1:c.7794+121_7794+122del	XP_016861178.1:n.7794+121_7794+122del
XR_001740003.1:n.7830+121_7830+122del
XR_001740004.1:n.7830+121_7830+122del
XR_001740005.1:n.7830+121_7830+122del
XR_001740006.1:n.7804+121_7804+122del
NM_000094.4:c.7794+121_7794+122del MANE Select	NP_000085.1:n.7794+121_7794+122del