Canonical Allele Identifier: CA2838844863

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570302dup , CM000665.2:g.48570302dup	GRCh38
NC_000003.11:g.48607735dup , CM000665.1:g.48607735dup	GRCh37
NC_000003.10:g.48582739dup	NCBI36
NG_007065.1:g.29951dup , LRG_286:g.29951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7413dup MANE Select	ENSP00000506558.1:p.Gly2472ArgfsTer11
ENST00000328333.12:c.7413dup	ENSP00000332371.8:p.Gly2472ArgfsTer11
ENST00000422991.1:c.408dup	ENSP00000391608.1:p.Gly137ArgfsTer11
ENST00000459756.5:n.140dup
ENST00000467985.1:n.163dup
ENST00000487017.5:n.4052dup
NM_000094.3:c.7413dup , LRG_286t1:c.7413dup	NP_000085.1:p.Gly2472ArgfsTer11
XM_011533336.1:c.7440dup	XP_011531638.1:p.Gly2481ArgfsTer11
XM_011533337.1:c.7413dup	XP_011531639.1:p.Gly2472ArgfsTer11
XM_011533338.1:c.7408-124dup	XP_011531640.1:n.7408-124dup
XM_011533339.1:c.7440dup	XP_011531641.1:p.Gly2481ArgfsTer11
XM_011533340.1:c.7408-50dup	XP_011531642.1:n.7408-50dup
XM_011533341.1:c.7382-50dup	XP_011531643.1:n.7382-50dup
XM_011533342.1:c.7382-124dup	XP_011531644.1:n.7382-124dup
XR_940369.1:n.7476dup
XR_940370.1:n.7476dup
XR_940371.1:n.7476dup
XR_940372.1:n.7450dup
XM_017005688.1:c.7381-124dup	XP_016861177.1:n.7381-124dup
XM_017005689.1:c.7413dup	XP_016861178.1:p.Gly2472ArgfsTer11
XM_017005690.1:c.7381-50dup	XP_016861179.1:n.7381-50dup
XM_017005691.1:c.7355-50dup	XP_016861180.1:n.7355-50dup
XM_017005692.1:c.7355-124dup	XP_016861181.1:n.7355-124dup
XR_001740003.1:n.7449dup
XR_001740004.1:n.7449dup
XR_001740005.1:n.7449dup
XR_001740006.1:n.7423dup
NM_000094.4:c.7413dup MANE Select	NP_000085.1:p.Gly2472ArgfsTer11