Canonical Allele Identifier: CA1363075430

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567328_48567329delinsTC , CM000665.2:g.48567328_48567329delinsTC	GRCh38
NC_000003.11:g.48604761_48604762delinsTC , CM000665.1:g.48604761_48604762delinsTC	GRCh37
NC_000003.10:g.48579765_48579766delinsTC	NCBI36
NG_007065.1:g.32924_32925delinsGA , LRG_286:g.32924_32925delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8047-139_8047-138delinsGA MANE Select	ENSP00000506558.1:n.8047-139_8047-138delinsGA
ENST00000328333.12:c.8047-139_8047-138delinsGA	ENSP00000332371.8:n.8047-139_8047-138delinsGA
ENST00000474432.1:n.35_36delinsGA
ENST00000487017.5:n.4686-139_4686-138delinsGA
NM_000094.3:c.8047-139_8047-138delinsGA , LRG_286t1:c.8047-139_8047-138delinsGA	NP_000085.1:n.8047-139_8047-138delinsGA
XM_011533336.1:c.8074-139_8074-138delinsGA	XP_011531638.1:n.8074-139_8074-138delinsGA
XM_011533337.1:c.8047-139_8047-138delinsGA	XP_011531639.1:n.8047-139_8047-138delinsGA
XM_011533338.1:c.8014-139_8014-138delinsGA	XP_011531640.1:n.8014-139_8014-138delinsGA
XR_940369.1:n.8110-139_8110-138delinsGA
XR_940370.1:n.8110-139_8110-138delinsGA
XR_940371.1:n.8110-139_8110-138delinsGA
XM_017005688.1:c.7987-139_7987-138delinsGA	XP_016861177.1:n.7987-139_7987-138delinsGA
XR_001740003.1:n.8083-139_8083-138delinsGA
XR_001740004.1:n.8083-139_8083-138delinsGA
XR_001740005.1:n.8083-139_8083-138delinsGA
NM_000094.4:c.8047-139_8047-138delinsGA MANE Select	NP_000085.1:n.8047-139_8047-138delinsGA