Canonical Allele Identifier: CA2502153171

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567406-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567408del , CM000665.2:g.48567408del	GRCh38
NC_000003.11:g.48604841del , CM000665.1:g.48604841del	GRCh37
NC_000003.10:g.48579845del	NCBI36
NG_007065.1:g.32846del , LRG_286:g.32846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8046+167del MANE Select	ENSP00000506558.1:n.8046+167del
ENST00000328333.12:c.8046+167del	ENSP00000332371.8:n.8046+167del
ENST00000487017.5:n.4685+167del
NM_000094.3:c.8046+167del , LRG_286t1:c.8046+167del	NP_000085.1:n.8046+167del
XM_011533336.1:c.8073+167del	XP_011531638.1:n.8073+167del
XM_011533337.1:c.8046+167del	XP_011531639.1:n.8046+167del
XM_011533338.1:c.8013+167del	XP_011531640.1:n.8013+167del
XR_940369.1:n.8109+167del
XR_940370.1:n.8109+167del
XR_940371.1:n.8109+167del
XM_017005688.1:c.7986+167del	XP_016861177.1:n.7986+167del
XR_001740003.1:n.8082+167del
XR_001740004.1:n.8082+167del
XR_001740005.1:n.8082+167del
NM_000094.4:c.8046+167del MANE Select	NP_000085.1:n.8046+167del