Canonical Allele Identifier: CA2665619642

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568447-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568448_48568449del , CM000665.2:g.48568448_48568449del	GRCh38
NC_000003.11:g.48605881_48605882del , CM000665.1:g.48605881_48605882del	GRCh37
NC_000003.10:g.48580885_48580886del	NCBI36
NG_007065.1:g.31804_31805del , LRG_286:g.31804_31805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+50_7794+51del MANE Select	ENSP00000506558.1:n.7794+50_7794+51del
ENST00000328333.12:c.7794+50_7794+51del	ENSP00000332371.8:n.7794+50_7794+51del
ENST00000459756.5:n.617+50_617+51del
ENST00000467985.1:n.640+50_640+51del
ENST00000487017.5:n.4433+50_4433+51del
NM_000094.3:c.7794+50_7794+51del , LRG_286t1:c.7794+50_7794+51del	NP_000085.1:n.7794+50_7794+51del
XM_011533336.1:c.7821+50_7821+51del	XP_011531638.1:n.7821+50_7821+51del
XM_011533337.1:c.7794+50_7794+51del	XP_011531639.1:n.7794+50_7794+51del
XM_011533338.1:c.7761+50_7761+51del	XP_011531640.1:n.7761+50_7761+51del
XM_011533339.1:c.7821+50_7821+51del	XP_011531641.1:n.7821+50_7821+51del
XR_940369.1:n.7857+50_7857+51del
XR_940370.1:n.7857+50_7857+51del
XR_940371.1:n.7857+50_7857+51del
XR_940372.1:n.7831+50_7831+51del
XM_017005688.1:c.7734+50_7734+51del	XP_016861177.1:n.7734+50_7734+51del
XM_017005689.1:c.7794+50_7794+51del	XP_016861178.1:n.7794+50_7794+51del
XR_001740003.1:n.7830+50_7830+51del
XR_001740004.1:n.7830+50_7830+51del
XR_001740005.1:n.7830+50_7830+51del
XR_001740006.1:n.7804+50_7804+51del
NM_000094.4:c.7794+50_7794+51del MANE Select	NP_000085.1:n.7794+50_7794+51del