Canonical Allele Identifier: CA2665619569

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568382-G-GAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568385_48568386dup , CM000665.2:g.48568385_48568386dup	GRCh38
NC_000003.11:g.48605818_48605819dup , CM000665.1:g.48605818_48605819dup	GRCh37
NC_000003.10:g.48580822_48580823dup	NCBI36
NG_007065.1:g.31869_31870dup , LRG_286:g.31869_31870dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7794+115_7794+116dup MANE Select	ENSP00000506558.1:n.7794+115_7794+116dup
ENST00000328333.12:c.7794+115_7794+116dup	ENSP00000332371.8:n.7794+115_7794+116dup
ENST00000459756.5:n.617+115_617+116dup
ENST00000467985.1:n.640+115_640+116dup
ENST00000487017.5:n.4433+115_4433+116dup
NM_000094.3:c.7794+115_7794+116dup , LRG_286t1:c.7794+115_7794+116dup	NP_000085.1:n.7794+115_7794+116dup
XM_011533336.1:c.7821+115_7821+116dup	XP_011531638.1:n.7821+115_7821+116dup
XM_011533337.1:c.7794+115_7794+116dup	XP_011531639.1:n.7794+115_7794+116dup
XM_011533338.1:c.7761+115_7761+116dup	XP_011531640.1:n.7761+115_7761+116dup
XM_011533339.1:c.7821+115_7821+116dup	XP_011531641.1:n.7821+115_7821+116dup
XR_940369.1:n.7857+115_7857+116dup
XR_940370.1:n.7857+115_7857+116dup
XR_940371.1:n.7857+115_7857+116dup
XR_940372.1:n.7831+115_7831+116dup
XM_017005688.1:c.7734+115_7734+116dup	XP_016861177.1:n.7734+115_7734+116dup
XM_017005689.1:c.7794+115_7794+116dup	XP_016861178.1:n.7794+115_7794+116dup
XR_001740003.1:n.7830+115_7830+116dup
XR_001740004.1:n.7830+115_7830+116dup
XR_001740005.1:n.7830+115_7830+116dup
XR_001740006.1:n.7804+115_7804+116dup
NM_000094.4:c.7794+115_7794+116dup MANE Select	NP_000085.1:n.7794+115_7794+116dup