Canonical Allele Identifier: CA907758624

Gene: COL7A1

Linked Data

• dbSNP Id: rs1268878054
• gnomAD v4: 3-48570003-CCAGA-C
• MyVariant Identifiers: chr3:g.48607437_48607440del (hg19) ; chr3:g.48570004_48570007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570006_48570009del , CM000665.2:g.48570006_48570009del	GRCh38
NC_000003.11:g.48607439_48607442del , CM000665.1:g.48607439_48607442del	GRCh37
NC_000003.10:g.48582443_48582446del	NCBI36
NG_007065.1:g.30246_30249del , LRG_286:g.30246_30249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7486-92_7486-89del MANE Select	ENSP00000506558.1:n.7486-92_7486-89del
ENST00000328333.12:c.7486-92_7486-89del	ENSP00000332371.8:n.7486-92_7486-89del
ENST00000422991.1:c.481-92_481-89del	ENSP00000391608.1:n.481-92_481-89del
ENST00000459756.5:n.309-92_309-89del
ENST00000467985.1:n.332-92_332-89del
ENST00000487017.5:n.4125-92_4125-89del
NM_000094.3:c.7486-92_7486-89del , LRG_286t1:c.7486-92_7486-89del	NP_000085.1:n.7486-92_7486-89del
XM_011533336.1:c.7513-92_7513-89del	XP_011531638.1:n.7513-92_7513-89del
XM_011533337.1:c.7486-92_7486-89del	XP_011531639.1:n.7486-92_7486-89del
XM_011533338.1:c.7453-92_7453-89del	XP_011531640.1:n.7453-92_7453-89del
XM_011533339.1:c.7513-92_7513-89del	XP_011531641.1:n.7513-92_7513-89del
XM_011533342.1:c.*41-92_*41-89del	XP_011531644.1:n.*41-92_*41-89del
XR_940369.1:n.7549-92_7549-89del
XR_940370.1:n.7549-92_7549-89del
XR_940371.1:n.7549-92_7549-89del
XR_940372.1:n.7523-92_7523-89del
XM_017005688.1:c.7426-92_7426-89del	XP_016861177.1:n.7426-92_7426-89del
XM_017005689.1:c.7486-92_7486-89del	XP_016861178.1:n.7486-92_7486-89del
XM_017005692.1:c.*41-92_*41-89del	XP_016861181.1:n.*41-92_*41-89del
XR_001740003.1:n.7522-92_7522-89del
XR_001740004.1:n.7522-92_7522-89del
XR_001740005.1:n.7522-92_7522-89del
XR_001740006.1:n.7496-92_7496-89del
NM_000094.4:c.7486-92_7486-89del MANE Select	NP_000085.1:n.7486-92_7486-89del