Canonical Allele Identifier: CA2577587813

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570220del , CM000665.2:g.48570220del	GRCh38
NC_000003.11:g.48607653del , CM000665.1:g.48607653del	GRCh37
NC_000003.10:g.48582657del	NCBI36
NG_007065.1:g.30033del , LRG_286:g.30033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7441-42del MANE Select	ENSP00000506558.1:n.7441-42del
ENST00000328333.12:c.7441-42del	ENSP00000332371.8:n.7441-42del
ENST00000422991.1:c.436-42del	ENSP00000391608.1:n.436-42del
ENST00000459756.5:n.222del
ENST00000467985.1:n.245del
ENST00000487017.5:n.4080-42del
NM_000094.3:c.7441-42del , LRG_286t1:c.7441-42del	NP_000085.1:n.7441-42del
XM_011533336.1:c.7468-42del	XP_011531638.1:n.7468-42del
XM_011533337.1:c.7441-42del	XP_011531639.1:n.7441-42del
XM_011533338.1:c.7408-42del	XP_011531640.1:n.7408-42del
XM_011533339.1:c.7468-42del	XP_011531641.1:n.7468-42del
XM_011533340.1:c.7440del	XP_011531642.1:p.Ter2480CysextTer8
XM_011533341.1:c.7414del	XP_011531643.1:p.Ile2472PhefsTer?
XM_011533342.1:c.7382-42del	XP_011531644.1:n.7382-42del
XR_940369.1:n.7504-42del
XR_940370.1:n.7504-42del
XR_940371.1:n.7504-42del
XR_940372.1:n.7478-42del
XM_017005688.1:c.7381-42del	XP_016861177.1:n.7381-42del
XM_017005689.1:c.7441-42del	XP_016861178.1:n.7441-42del
XM_017005690.1:c.7413del	XP_016861179.1:p.Ter2471CysextTer8
XM_017005691.1:c.7387del	XP_016861180.1:p.Ile2463PhefsTer?
XM_017005692.1:c.7355-42del	XP_016861181.1:n.7355-42del
XR_001740003.1:n.7477-42del
XR_001740004.1:n.7477-42del
XR_001740005.1:n.7477-42del
XR_001740006.1:n.7451-42del
NM_000094.4:c.7441-42del MANE Select	NP_000085.1:n.7441-42del