Canonical Allele Identifier: CA2665619988

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568667-TGGGGCCGGCAGCAAGGGAGCCAGAACCCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568669_48568699del , CM000665.2:g.48568669_48568699del	GRCh38
NC_000003.11:g.48606102_48606132del , CM000665.1:g.48606102_48606132del	GRCh37
NC_000003.10:g.48581106_48581136del	NCBI36
NG_007065.1:g.31555_31585del , LRG_286:g.31555_31585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+86_7758+116del MANE Select	ENSP00000506558.1:n.7758+86_7758+116del
ENST00000328333.12:c.7758+86_7758+116del	ENSP00000332371.8:n.7758+86_7758+116del
ENST00000459756.5:n.581+86_581+116del
ENST00000467985.1:n.604+86_604+116del
ENST00000487017.5:n.4397+86_4397+116del
NM_000094.3:c.7758+86_7758+116del , LRG_286t1:c.7758+86_7758+116del	NP_000085.1:n.7758+86_7758+116del
XM_011533336.1:c.7785+86_7785+116del	XP_011531638.1:n.7785+86_7785+116del
XM_011533337.1:c.7758+86_7758+116del	XP_011531639.1:n.7758+86_7758+116del
XM_011533338.1:c.7725+86_7725+116del	XP_011531640.1:n.7725+86_7725+116del
XM_011533339.1:c.7785+86_7785+116del	XP_011531641.1:n.7785+86_7785+116del
XR_940369.1:n.7821+86_7821+116del
XR_940370.1:n.7821+86_7821+116del
XR_940371.1:n.7821+86_7821+116del
XR_940372.1:n.7795+86_7795+116del
XM_017005688.1:c.7698+86_7698+116del	XP_016861177.1:n.7698+86_7698+116del
XM_017005689.1:c.7758+86_7758+116del	XP_016861178.1:n.7758+86_7758+116del
XR_001740003.1:n.7794+86_7794+116del
XR_001740004.1:n.7794+86_7794+116del
XR_001740005.1:n.7794+86_7794+116del
XR_001740006.1:n.7768+86_7768+116del
NM_000094.4:c.7758+86_7758+116del MANE Select	NP_000085.1:n.7758+86_7758+116del