Canonical Allele Identifier: CA1047676795

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043728568
• gnomAD v3: 3-48568656-G-GT
• gnomAD v4: 3-48568656-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568657dup , CM000665.2:g.48568657dup	GRCh38
NC_000003.11:g.48606090dup , CM000665.1:g.48606090dup	GRCh37
NC_000003.10:g.48581094dup	NCBI36
NG_007065.1:g.31596dup , LRG_286:g.31596dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7759-123dup MANE Select	ENSP00000506558.1:n.7759-123dup
ENST00000328333.12:c.7759-123dup	ENSP00000332371.8:n.7759-123dup
ENST00000459756.5:n.582-123dup
ENST00000467985.1:n.605-123dup
ENST00000487017.5:n.4398-123dup
NM_000094.3:c.7759-123dup , LRG_286t1:c.7759-123dup	NP_000085.1:n.7759-123dup
XM_011533336.1:c.7786-123dup	XP_011531638.1:n.7786-123dup
XM_011533337.1:c.7759-123dup	XP_011531639.1:n.7759-123dup
XM_011533338.1:c.7726-123dup	XP_011531640.1:n.7726-123dup
XM_011533339.1:c.7786-123dup	XP_011531641.1:n.7786-123dup
XR_940369.1:n.7822-123dup
XR_940370.1:n.7822-123dup
XR_940371.1:n.7822-123dup
XR_940372.1:n.7796-123dup
XM_017005688.1:c.7699-123dup	XP_016861177.1:n.7699-123dup
XM_017005689.1:c.7759-123dup	XP_016861178.1:n.7759-123dup
XR_001740003.1:n.7795-123dup
XR_001740004.1:n.7795-123dup
XR_001740005.1:n.7795-123dup
XR_001740006.1:n.7769-123dup
NM_000094.4:c.7759-123dup MANE Select	NP_000085.1:n.7759-123dup