Canonical Allele Identifier: CA1363077550

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568743_48568761delinsTCTGGACCTGGGCCTGGGC , CM000665.2:g.48568743_48568761delinsTCTGGACCTGGGCCTGGGC	GRCh38
NC_000003.11:g.48606176_48606194delinsTCTGGACCTGGGCCTGGGC , CM000665.1:g.48606176_48606194delinsTCTGGACCTGGGCCTGGGC	GRCh37
NC_000003.10:g.48581180_48581198delinsTCTGGACCTGGGCCTGGGC	NCBI36
NG_007065.1:g.31492_31510delinsGCCCAGGCCCAGGTCCAGA , LRG_286:g.31492_31510delinsGCCCAGGCCCAGGTCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA MANE Select	ENSP00000506558.1:n.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA
ENST00000328333.12:c.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA	ENSP00000332371.8:n.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA
ENST00000459756.5:n.581+23_581+41delinsGCCCAGGCCCAGGTCCAGA
ENST00000467985.1:n.604+23_604+41delinsGCCCAGGCCCAGGTCCAGA
ENST00000487017.5:n.4397+23_4397+41delinsGCCCAGGCCCAGGTCCAGA
NM_000094.3:c.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA , LRG_286t1:c.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA	NP_000085.1:n.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA
XM_011533336.1:c.7785+23_7785+41delinsGCCCAGGCCCAGGTCCAGA	XP_011531638.1:n.7785+23_7785+41delinsGCCCAGGCCCAGGTCCAGA
XM_011533337.1:c.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA	XP_011531639.1:n.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA
XM_011533338.1:c.7725+23_7725+41delinsGCCCAGGCCCAGGTCCAGA	XP_011531640.1:n.7725+23_7725+41delinsGCCCAGGCCCAGGTCCAGA
XM_011533339.1:c.7785+23_7785+41delinsGCCCAGGCCCAGGTCCAGA	XP_011531641.1:n.7785+23_7785+41delinsGCCCAGGCCCAGGTCCAGA
XR_940369.1:n.7821+23_7821+41delinsGCCCAGGCCCAGGTCCAGA
XR_940370.1:n.7821+23_7821+41delinsGCCCAGGCCCAGGTCCAGA
XR_940371.1:n.7821+23_7821+41delinsGCCCAGGCCCAGGTCCAGA
XR_940372.1:n.7795+23_7795+41delinsGCCCAGGCCCAGGTCCAGA
XM_017005688.1:c.7698+23_7698+41delinsGCCCAGGCCCAGGTCCAGA	XP_016861177.1:n.7698+23_7698+41delinsGCCCAGGCCCAGGTCCAGA
XM_017005689.1:c.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA	XP_016861178.1:n.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA
XR_001740003.1:n.7794+23_7794+41delinsGCCCAGGCCCAGGTCCAGA
XR_001740004.1:n.7794+23_7794+41delinsGCCCAGGCCCAGGTCCAGA
XR_001740005.1:n.7794+23_7794+41delinsGCCCAGGCCCAGGTCCAGA
XR_001740006.1:n.7768+23_7768+41delinsGCCCAGGCCCAGGTCCAGA
NM_000094.4:c.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA MANE Select	NP_000085.1:n.7758+23_7758+41delinsGCCCAGGCCCAGGTCCAGA