Canonical Allele Identifier: CA2586972187

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567801_48567816del , CM000665.2:g.48567801_48567816del	GRCh38
NC_000003.11:g.48605234_48605249del , CM000665.1:g.48605234_48605249del	GRCh37
NC_000003.10:g.48580238_48580253del	NCBI36
NG_007065.1:g.32441_32456del , LRG_286:g.32441_32456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7929+26_7930-34del MANE Select	ENSP00000506558.1:n.7929+26_7930-34del
ENST00000328333.12:c.7929+26_7930-34del	ENSP00000332371.8:n.7929+26_7930-34del
ENST00000459756.5:n.752+26_753-34del
ENST00000487017.5:n.4568+26_4569-34del
NM_000094.3:c.7929+26_7930-34del , LRG_286t1:c.7929+26_7930-34del	NP_000085.1:n.7929+26_7930-34del
XM_011533336.1:c.7956+26_7957-34del	XP_011531638.1:n.7956+26_7957-34del
XM_011533337.1:c.7929+26_7930-34del	XP_011531639.1:n.7929+26_7930-34del
XM_011533338.1:c.7896+26_7897-34del	XP_011531640.1:n.7896+26_7897-34del
XR_940369.1:n.7992+26_7993-34del
XR_940370.1:n.7992+26_7993-34del
XR_940371.1:n.7992+26_7993-34del
XM_017005688.1:c.7869+26_7870-34del	XP_016861177.1:n.7869+26_7870-34del
XR_001740003.1:n.7965+26_7966-34del
XR_001740004.1:n.7965+26_7966-34del
XR_001740005.1:n.7965+26_7966-34del
NM_000094.4:c.7929+26_7930-34del MANE Select	NP_000085.1:n.7929+26_7930-34del