Canonical Allele Identifier: CA2665621525

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570017-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570018_48570019del , CM000665.2:g.48570018_48570019del	GRCh38
NC_000003.11:g.48607451_48607452del , CM000665.1:g.48607451_48607452del	GRCh37
NC_000003.10:g.48582455_48582456del	NCBI36
NG_007065.1:g.30234_30235del , LRG_286:g.30234_30235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7486-104_7486-103del MANE Select	ENSP00000506558.1:n.7486-104_7486-103del
ENST00000328333.12:c.7486-104_7486-103del	ENSP00000332371.8:n.7486-104_7486-103del
ENST00000422991.1:c.481-104_481-103del	ENSP00000391608.1:n.481-104_481-103del
ENST00000459756.5:n.309-104_309-103del
ENST00000467985.1:n.332-104_332-103del
ENST00000487017.5:n.4125-104_4125-103del
NM_000094.3:c.7486-104_7486-103del , LRG_286t1:c.7486-104_7486-103del	NP_000085.1:n.7486-104_7486-103del
XM_011533336.1:c.7513-104_7513-103del	XP_011531638.1:n.7513-104_7513-103del
XM_011533337.1:c.7486-104_7486-103del	XP_011531639.1:n.7486-104_7486-103del
XM_011533338.1:c.7453-104_7453-103del	XP_011531640.1:n.7453-104_7453-103del
XM_011533339.1:c.7513-104_7513-103del	XP_011531641.1:n.7513-104_7513-103del
XM_011533342.1:c.*41-104_*41-103del	XP_011531644.1:n.*41-104_*41-103del
XR_940369.1:n.7549-104_7549-103del
XR_940370.1:n.7549-104_7549-103del
XR_940371.1:n.7549-104_7549-103del
XR_940372.1:n.7523-104_7523-103del
XM_017005688.1:c.7426-104_7426-103del	XP_016861177.1:n.7426-104_7426-103del
XM_017005689.1:c.7486-104_7486-103del	XP_016861178.1:n.7486-104_7486-103del
XM_017005692.1:c.*41-104_*41-103del	XP_016861181.1:n.*41-104_*41-103del
XR_001740003.1:n.7522-104_7522-103del
XR_001740004.1:n.7522-104_7522-103del
XR_001740005.1:n.7522-104_7522-103del
XR_001740006.1:n.7496-104_7496-103del
NM_000094.4:c.7486-104_7486-103del MANE Select	NP_000085.1:n.7486-104_7486-103del