Canonical Allele Identifier: CA1363077011

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568376_48568379delinsCATG , CM000665.2:g.48568376_48568379delinsCATG	GRCh38
NC_000003.11:g.48605809_48605812delinsCATG , CM000665.1:g.48605809_48605812delinsCATG	GRCh37
NC_000003.10:g.48580813_48580816delinsCATG	NCBI36
NG_007065.1:g.31874_31877delinsCATG , LRG_286:g.31874_31877delinsCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+120_7794+123delinsCATG MANE Select	ENSP00000506558.1:n.7794+120_7794+123delinsCATG
ENST00000328333.12:c.7794+120_7794+123delinsCATG	ENSP00000332371.8:n.7794+120_7794+123delinsCATG
ENST00000459756.5:n.617+120_617+123delinsCATG
ENST00000467985.1:n.640+120_640+123delinsCATG
ENST00000487017.5:n.4433+120_4433+123delinsCATG
NM_000094.3:c.7794+120_7794+123delinsCATG , LRG_286t1:c.7794+120_7794+123delinsCATG	NP_000085.1:n.7794+120_7794+123delinsCATG
XM_011533336.1:c.7821+120_7821+123delinsCATG	XP_011531638.1:n.7821+120_7821+123delinsCATG
XM_011533337.1:c.7794+120_7794+123delinsCATG	XP_011531639.1:n.7794+120_7794+123delinsCATG
XM_011533338.1:c.7761+120_7761+123delinsCATG	XP_011531640.1:n.7761+120_7761+123delinsCATG
XM_011533339.1:c.7821+120_7821+123delinsCATG	XP_011531641.1:n.7821+120_7821+123delinsCATG
XR_940369.1:n.7857+120_7857+123delinsCATG
XR_940370.1:n.7857+120_7857+123delinsCATG
XR_940371.1:n.7857+120_7857+123delinsCATG
XR_940372.1:n.7831+120_7831+123delinsCATG
XM_017005688.1:c.7734+120_7734+123delinsCATG	XP_016861177.1:n.7734+120_7734+123delinsCATG
XM_017005689.1:c.7794+120_7794+123delinsCATG	XP_016861178.1:n.7794+120_7794+123delinsCATG
XR_001740003.1:n.7830+120_7830+123delinsCATG
XR_001740004.1:n.7830+120_7830+123delinsCATG
XR_001740005.1:n.7830+120_7830+123delinsCATG
XR_001740006.1:n.7804+120_7804+123delinsCATG
NM_000094.4:c.7794+120_7794+123delinsCATG MANE Select	NP_000085.1:n.7794+120_7794+123delinsCATG