Canonical Allele Identifier: CA1363075740

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567605_48567606delinsGC , CM000665.2:g.48567605_48567606delinsGC	GRCh38
NC_000003.11:g.48605038_48605039delinsGC , CM000665.1:g.48605038_48605039delinsGC	GRCh37
NC_000003.10:g.48580042_48580043delinsGC	NCBI36
NG_007065.1:g.32647_32648delinsGC , LRG_286:g.32647_32648delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8014_8015delinsGC MANE Select	ENSP00000506558.1:p.Ala2672=
ENST00000328333.12:c.8014_8015delinsGC	ENSP00000332371.8:p.Ala2672=
ENST00000487017.5:n.4653_4654delinsGC
NM_000094.3:c.8014_8015delinsGC , LRG_286t1:c.8014_8015delinsGC	NP_000085.1:p.Ala2672=
XM_011533336.1:c.8041_8042delinsGC	XP_011531638.1:p.Ala2681=
XM_011533337.1:c.8014_8015delinsGC	XP_011531639.1:p.Ala2672=
XM_011533338.1:c.7981_7982delinsGC	XP_011531640.1:p.Ala2661=
XR_940369.1:n.8077_8078delinsGC
XR_940370.1:n.8077_8078delinsGC
XR_940371.1:n.8077_8078delinsGC
XM_017005688.1:c.7954_7955delinsGC	XP_016861177.1:p.Ala2652=
XR_001740003.1:n.8050_8051delinsGC
XR_001740004.1:n.8050_8051delinsGC
XR_001740005.1:n.8050_8051delinsGC
NM_000094.4:c.8014_8015delinsGC MANE Select	NP_000085.1:p.Ala2672=