Canonical Allele Identifier: CA1363077507

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568717_48568718delinsAG , CM000665.2:g.48568717_48568718delinsAG	GRCh38
NC_000003.11:g.48606150_48606151delinsAG , CM000665.1:g.48606150_48606151delinsAG	GRCh37
NC_000003.10:g.48581154_48581155delinsAG	NCBI36
NG_007065.1:g.31535_31536delinsCT , LRG_286:g.31535_31536delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+66_7758+67delinsCT MANE Select	ENSP00000506558.1:n.7758+66_7758+67delinsCT
ENST00000328333.12:c.7758+66_7758+67delinsCT	ENSP00000332371.8:n.7758+66_7758+67delinsCT
ENST00000459756.5:n.581+66_581+67delinsCT
ENST00000467985.1:n.604+66_604+67delinsCT
ENST00000487017.5:n.4397+66_4397+67delinsCT
NM_000094.3:c.7758+66_7758+67delinsCT , LRG_286t1:c.7758+66_7758+67delinsCT	NP_000085.1:n.7758+66_7758+67delinsCT
XM_011533336.1:c.7785+66_7785+67delinsCT	XP_011531638.1:n.7785+66_7785+67delinsCT
XM_011533337.1:c.7758+66_7758+67delinsCT	XP_011531639.1:n.7758+66_7758+67delinsCT
XM_011533338.1:c.7725+66_7725+67delinsCT	XP_011531640.1:n.7725+66_7725+67delinsCT
XM_011533339.1:c.7785+66_7785+67delinsCT	XP_011531641.1:n.7785+66_7785+67delinsCT
XR_940369.1:n.7821+66_7821+67delinsCT
XR_940370.1:n.7821+66_7821+67delinsCT
XR_940371.1:n.7821+66_7821+67delinsCT
XR_940372.1:n.7795+66_7795+67delinsCT
XM_017005688.1:c.7698+66_7698+67delinsCT	XP_016861177.1:n.7698+66_7698+67delinsCT
XM_017005689.1:c.7758+66_7758+67delinsCT	XP_016861178.1:n.7758+66_7758+67delinsCT
XR_001740003.1:n.7794+66_7794+67delinsCT
XR_001740004.1:n.7794+66_7794+67delinsCT
XR_001740005.1:n.7794+66_7794+67delinsCT
XR_001740006.1:n.7768+66_7768+67delinsCT
NM_000094.4:c.7758+66_7758+67delinsCT MANE Select	NP_000085.1:n.7758+66_7758+67delinsCT