Canonical Allele Identifier: CA2665618269

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567352-AGCCCCCTGCCCTGATGCACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567360_48567380del , CM000665.2:g.48567360_48567380del	GRCh38
NC_000003.11:g.48604793_48604813del , CM000665.1:g.48604793_48604813del	GRCh37
NC_000003.10:g.48579797_48579817del	NCBI36
NG_007065.1:g.32880_32900del , LRG_286:g.32880_32900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8047-183_8047-163del MANE Select	ENSP00000506558.1:n.8047-183_8047-163del
ENST00000328333.12:c.8047-183_8047-163del	ENSP00000332371.8:n.8047-183_8047-163del
ENST00000487017.5:n.4686-183_4686-163del
NM_000094.3:c.8047-183_8047-163del , LRG_286t1:c.8047-183_8047-163del	NP_000085.1:n.8047-183_8047-163del
XM_011533336.1:c.8074-183_8074-163del	XP_011531638.1:n.8074-183_8074-163del
XM_011533337.1:c.8047-183_8047-163del	XP_011531639.1:n.8047-183_8047-163del
XM_011533338.1:c.8014-183_8014-163del	XP_011531640.1:n.8014-183_8014-163del
XR_940369.1:n.8110-183_8110-163del
XR_940370.1:n.8110-183_8110-163del
XR_940371.1:n.8110-183_8110-163del
XM_017005688.1:c.7987-183_7987-163del	XP_016861177.1:n.7987-183_7987-163del
XR_001740003.1:n.8083-183_8083-163del
XR_001740004.1:n.8083-183_8083-163del
XR_001740005.1:n.8083-183_8083-163del
NM_000094.4:c.8047-183_8047-163del MANE Select	NP_000085.1:n.8047-183_8047-163del