Canonical Allele Identifier: CA1363079170

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565557_48565558delinsAC , CM000665.2:g.48565557_48565558delinsAC	GRCh38
NC_000003.11:g.48602990_48602991delinsAC , CM000665.1:g.48602990_48602991delinsAC	GRCh37
NC_000003.10:g.48577994_48577995delinsAC	NCBI36
NG_007065.1:g.34695_34696delinsGT , LRG_286:g.34695_34696delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8441-62_8441-61delinsGT MANE Select	ENSP00000506558.1:n.8441-62_8441-61delins...
ENST00000328333.12:c.8441-62_8441-61delinsGT	ENSP00000332371.8:n.8441-62_8441-61delins...
ENST00000487017.5:n.5080-62_5080-61delinsGT
NM_000094.3:c.8441-62_8441-61delinsGT , LRG_286t1:c.8441-62_8441-61delinsGT	NP_000085.1:n.8441-62_8441-61delinsGT
XM_011533336.1:c.8468-62_8468-61delinsGT	XP_011531638.1:n.8468-62_8468-61delinsGT
XM_011533337.1:c.8441-62_8441-61delinsGT	XP_011531639.1:n.8441-62_8441-61delinsGT
XM_011533338.1:c.8408-62_8408-61delinsGT	XP_011531640.1:n.8408-62_8408-61delinsGT
XR_940369.1:n.8504-62_8504-61delinsGT
XR_940370.1:n.8504-62_8504-61delinsGT
XR_940371.1:n.8504-62_8504-61delinsGT
XM_017005688.1:c.8381-62_8381-61delinsGT	XP_016861177.1:n.8381-62_8381-61delinsGT
XR_001740003.1:n.8477-62_8477-61delinsGT
XR_001740004.1:n.8477-62_8477-61delinsGT
XR_001740005.1:n.8477-62_8477-61delinsGT
NM_000094.4:c.8441-62_8441-61delinsGT MANE Select	NP_000085.1:n.8441-62_8441-61delinsGT