Canonical Allele Identifier: CA2378248

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1676612
• ClinVar RCV Id: RCV002277048
• dbSNP Id: rs773394779
• ExAC: 3:48605244 GCCCCCCAGCCCCCATC / G
• MyVariant Identifiers: chr3:g.48605245_48605260del (hg19) ; chr3:g.48567812_48567827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567815_48567830del , CM000665.2:g.48567815_48567830del	GRCh38
NC_000003.11:g.48605248_48605263del , CM000665.1:g.48605248_48605263del	GRCh37
NC_000003.10:g.48580252_48580267del	NCBI36
NG_007065.1:g.32426_32441del , LRG_286:g.32426_32441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7929+11_7929+26del MANE Select	ENSP00000506558.1:n.7929+11_7929+26del
ENST00000328333.12:c.7929+11_7929+26del	ENSP00000332371.8:n.7929+11_7929+26del
ENST00000459756.5:n.752+11_752+26del
ENST00000487017.5:n.4568+11_4568+26del
NM_000094.3:c.7929+11_7929+26del , LRG_286t1:c.7929+11_7929+26del	NP_000085.1:n.7929+11_7929+26del
XM_011533336.1:c.7956+11_7956+26del	XP_011531638.1:n.7956+11_7956+26del
XM_011533337.1:c.7929+11_7929+26del	XP_011531639.1:n.7929+11_7929+26del
XM_011533338.1:c.7896+11_7896+26del	XP_011531640.1:n.7896+11_7896+26del
XR_940369.1:n.7992+11_7992+26del
XR_940370.1:n.7992+11_7992+26del
XR_940371.1:n.7992+11_7992+26del
XM_017005688.1:c.7869+11_7869+26del	XP_016861177.1:n.7869+11_7869+26del
XR_001740003.1:n.7965+11_7965+26del
XR_001740004.1:n.7965+11_7965+26del
XR_001740005.1:n.7965+11_7965+26del
NM_000094.4:c.7929+11_7929+26del MANE Select	NP_000085.1:n.7929+11_7929+26del