Canonical Allele Identifier: CA1363082667

Gene: COL7A1

Linked Data

• dbSNP Id: rs2044204724

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575185dup , CM000665.2:g.48575185dup	GRCh38
NC_000003.11:g.48612618dup , CM000665.1:g.48612618dup	GRCh37
NC_000003.10:g.48587622dup	NCBI36
NG_007065.1:g.25071dup , LRG_286:g.25071dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6216+25dup MANE Select	ENSP00000506558.1:n.6216+25dup
ENST00000328333.12:c.6216+25dup	ENSP00000332371.8:n.6216+25dup
ENST00000487017.5:n.2133+25dup
NM_000094.3:c.6216+25dup , LRG_286t1:c.6216+25dup	NP_000085.1:n.6216+25dup
XM_011533336.1:c.6243+25dup	XP_011531638.1:n.6243+25dup
XM_011533337.1:c.6216+25dup	XP_011531639.1:n.6216+25dup
XM_011533338.1:c.6243+25dup	XP_011531640.1:n.6243+25dup
XM_011533339.1:c.6243+25dup	XP_011531641.1:n.6243+25dup
XM_011533340.1:c.6243+25dup	XP_011531642.1:n.6243+25dup
XM_011533341.1:c.6243+25dup	XP_011531643.1:n.6243+25dup
XM_011533342.1:c.6243+25dup	XP_011531644.1:n.6243+25dup
XR_940369.1:n.6279+25dup
XR_940370.1:n.6279+25dup
XR_940371.1:n.6279+25dup
XR_940372.1:n.6279+25dup
XR_940373.1:n.6279+25dup
XR_940374.1:n.6279+25dup
XR_940375.1:n.6217+25dup
XM_017005688.1:c.6216+25dup	XP_016861177.1:n.6216+25dup
XM_017005689.1:c.6216+25dup	XP_016861178.1:n.6216+25dup
XM_017005690.1:c.6216+25dup	XP_016861179.1:n.6216+25dup
XM_017005691.1:c.6216+25dup	XP_016861180.1:n.6216+25dup
XM_017005692.1:c.6216+25dup	XP_016861181.1:n.6216+25dup
XR_001740003.1:n.6252+25dup
XR_001740004.1:n.6252+25dup
XR_001740005.1:n.6252+25dup
XR_001740006.1:n.6252+25dup
XR_001740007.1:n.6252+25dup
XR_001740008.1:n.6252+25dup
XR_001740009.1:n.6190+25dup
NM_000094.4:c.6216+25dup MANE Select	NP_000085.1:n.6216+25dup