Canonical Allele Identifier: CA2665620473

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568995-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568997_48568998del , CM000665.2:g.48568997_48568998del	GRCh38
NC_000003.11:g.48606430_48606431del , CM000665.1:g.48606430_48606431del	GRCh37
NC_000003.10:g.48581434_48581435del	NCBI36
NG_007065.1:g.31256_31257del , LRG_286:g.31256_31257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7687-142_7687-141del MANE Select	ENSP00000506558.1:n.7687-142_7687-141del
ENST00000328333.12:c.7687-142_7687-141del	ENSP00000332371.8:n.7687-142_7687-141del
ENST00000459756.5:n.510-142_510-141del
ENST00000467985.1:n.533-142_533-141del
ENST00000487017.5:n.4326-142_4326-141del
NM_000094.3:c.7687-142_7687-141del , LRG_286t1:c.7687-142_7687-141del	NP_000085.1:n.7687-142_7687-141del
XM_011533336.1:c.7714-142_7714-141del	XP_011531638.1:n.7714-142_7714-141del
XM_011533337.1:c.7687-142_7687-141del	XP_011531639.1:n.7687-142_7687-141del
XM_011533338.1:c.7654-142_7654-141del	XP_011531640.1:n.7654-142_7654-141del
XM_011533339.1:c.7714-142_7714-141del	XP_011531641.1:n.7714-142_7714-141del
XR_940369.1:n.7750-142_7750-141del
XR_940370.1:n.7750-142_7750-141del
XR_940371.1:n.7750-142_7750-141del
XR_940372.1:n.7724-142_7724-141del
XM_017005688.1:c.7627-142_7627-141del	XP_016861177.1:n.7627-142_7627-141del
XM_017005689.1:c.7687-142_7687-141del	XP_016861178.1:n.7687-142_7687-141del
XR_001740003.1:n.7723-142_7723-141del
XR_001740004.1:n.7723-142_7723-141del
XR_001740005.1:n.7723-142_7723-141del
XR_001740006.1:n.7697-142_7697-141del
NM_000094.4:c.7687-142_7687-141del MANE Select	NP_000085.1:n.7687-142_7687-141del