Canonical Allele Identifier: CA2697550898

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2730036
• ClinVar RCV Id: RCV003579580

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567750_48567751del , CM000665.2:g.48567750_48567751del	GRCh38
NC_000003.11:g.48605183_48605184del , CM000665.1:g.48605183_48605184del	GRCh37
NC_000003.10:g.48580187_48580188del	NCBI36
NG_007065.1:g.32505_32506del , LRG_286:g.32505_32506del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7945_7946del MANE Select	ENSP00000506558.1:p.Pro2649ArgfsTer?
ENST00000328333.12:c.7945_7946del	ENSP00000332371.8:p.Pro2649ArgfsTer?
ENST00000459756.5:n.768_769del
ENST00000487017.5:n.4584_4585del
NM_000094.3:c.7945_7946del , LRG_286t1:c.7945_7946del	NP_000085.1:p.Pro2649ArgfsTer?
XM_011533336.1:c.7972_7973del	XP_011531638.1:p.Pro2658ArgfsTer?
XM_011533337.1:c.7945_7946del	XP_011531639.1:p.Pro2649ArgfsTer?
XM_011533338.1:c.7912_7913del	XP_011531640.1:p.Pro2638ArgfsTer?
XR_940369.1:n.8008_8009del
XR_940370.1:n.8008_8009del
XR_940371.1:n.8008_8009del
XM_017005688.1:c.7885_7886del	XP_016861177.1:p.Pro2629ArgfsTer?
XR_001740003.1:n.7981_7982del
XR_001740004.1:n.7981_7982del
XR_001740005.1:n.7981_7982del
NM_000094.4:c.7945_7946del MANE Select	NP_000085.1:p.Pro2649ArgfsTer?