Canonical Allele Identifier: CA2577587711

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568731_48568734del , CM000665.2:g.48568731_48568734del	GRCh38
NC_000003.11:g.48606164_48606167del , CM000665.1:g.48606164_48606167del	GRCh37
NC_000003.10:g.48581168_48581171del	NCBI36
NG_007065.1:g.31527_31530del , LRG_286:g.31527_31530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+58_7758+61del MANE Select	ENSP00000506558.1:n.7758+58_7758+61del
ENST00000328333.12:c.7758+58_7758+61del	ENSP00000332371.8:n.7758+58_7758+61del
ENST00000459756.5:n.581+58_581+61del
ENST00000467985.1:n.604+58_604+61del
ENST00000487017.5:n.4397+58_4397+61del
NM_000094.3:c.7758+58_7758+61del , LRG_286t1:c.7758+58_7758+61del	NP_000085.1:n.7758+58_7758+61del
XM_011533336.1:c.7785+58_7785+61del	XP_011531638.1:n.7785+58_7785+61del
XM_011533337.1:c.7758+58_7758+61del	XP_011531639.1:n.7758+58_7758+61del
XM_011533338.1:c.7725+58_7725+61del	XP_011531640.1:n.7725+58_7725+61del
XM_011533339.1:c.7785+58_7785+61del	XP_011531641.1:n.7785+58_7785+61del
XR_940369.1:n.7821+58_7821+61del
XR_940370.1:n.7821+58_7821+61del
XR_940371.1:n.7821+58_7821+61del
XR_940372.1:n.7795+58_7795+61del
XM_017005688.1:c.7698+58_7698+61del	XP_016861177.1:n.7698+58_7698+61del
XM_017005689.1:c.7758+58_7758+61del	XP_016861178.1:n.7758+58_7758+61del
XR_001740003.1:n.7794+58_7794+61del
XR_001740004.1:n.7794+58_7794+61del
XR_001740005.1:n.7794+58_7794+61del
XR_001740006.1:n.7768+58_7768+61del
NM_000094.4:c.7758+58_7758+61del MANE Select	NP_000085.1:n.7758+58_7758+61del