Canonical Allele Identifier: CA2665620079

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568755-C-CCTGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568760_48568761insACTGGG , CM000665.2:g.48568760_48568761insACTGGG	GRCh38
NC_000003.11:g.48606193_48606194insACTGGG , CM000665.1:g.48606193_48606194insACTGGG	GRCh37
NC_000003.10:g.48581197_48581198insACTGGG	NCBI36
NG_007065.1:g.31497_31498insTCCCAG , LRG_286:g.31497_31498insTCCCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7758+28_7758+29insTCCCAG MANE Select	ENSP00000506558.1:n.7758+28_7758+29insTCC...
ENST00000328333.12:c.7758+28_7758+29insTCCCAG	ENSP00000332371.8:n.7758+28_7758+29insTCC...
ENST00000459756.5:n.581+28_581+29insTCCCAG
ENST00000467985.1:n.604+28_604+29insTCCCAG
ENST00000487017.5:n.4397+28_4397+29insTCCCAG
NM_000094.3:c.7758+28_7758+29insTCCCAG , LRG_286t1:c.7758+28_7758+29insTCCCAG	NP_000085.1:n.7758+28_7758+29insTCCCAG
XM_011533336.1:c.7785+28_7785+29insTCCCAG	XP_011531638.1:n.7785+28_7785+29insTCCCAG...
XM_011533337.1:c.7758+28_7758+29insTCCCAG	XP_011531639.1:n.7758+28_7758+29insTCCCAG...
XM_011533338.1:c.7725+28_7725+29insTCCCAG	XP_011531640.1:n.7725+28_7725+29insTCCCAG...
XM_011533339.1:c.7785+28_7785+29insTCCCAG	XP_011531641.1:n.7785+28_7785+29insTCCCAG...
XR_940369.1:n.7821+28_7821+29insTCCCAG
XR_940370.1:n.7821+28_7821+29insTCCCAG
XR_940371.1:n.7821+28_7821+29insTCCCAG
XR_940372.1:n.7795+28_7795+29insTCCCAG
XM_017005688.1:c.7698+28_7698+29insTCCCAG	XP_016861177.1:n.7698+28_7698+29insTCCCAG...
XM_017005689.1:c.7758+28_7758+29insTCCCAG	XP_016861178.1:n.7758+28_7758+29insTCCCAG...
XR_001740003.1:n.7794+28_7794+29insTCCCAG
XR_001740004.1:n.7794+28_7794+29insTCCCAG
XR_001740005.1:n.7794+28_7794+29insTCCCAG
XR_001740006.1:n.7768+28_7768+29insTCCCAG
NM_000094.4:c.7758+28_7758+29insTCCCAG MANE Select	NP_000085.1:n.7758+28_7758+29insTCCCAG