Canonical Allele Identifier: CA2665618444

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48575039-A-ACTAAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575040_48575046dup , CM000665.2:g.48575040_48575046dup	GRCh38
NC_000003.11:g.48612473_48612479dup , CM000665.1:g.48612473_48612479dup	GRCh37
NC_000003.10:g.48587477_48587483dup	NCBI36
NG_007065.1:g.25207_25213dup , LRG_286:g.25207_25213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6279+18_6279+24dup MANE Select	ENSP00000506558.1:n.6279+18_6279+24dup
ENST00000328333.12:c.6279+18_6279+24dup	ENSP00000332371.8:n.6279+18_6279+24dup
ENST00000487017.5:n.2196+18_2196+24dup
NM_000094.3:c.6279+18_6279+24dup , LRG_286t1:c.6279+18_6279+24dup	NP_000085.1:n.6279+18_6279+24dup
XM_011533336.1:c.6306+18_6306+24dup	XP_011531638.1:n.6306+18_6306+24dup
XM_011533337.1:c.6279+18_6279+24dup	XP_011531639.1:n.6279+18_6279+24dup
XM_011533338.1:c.6306+18_6306+24dup	XP_011531640.1:n.6306+18_6306+24dup
XM_011533339.1:c.6306+18_6306+24dup	XP_011531641.1:n.6306+18_6306+24dup
XM_011533340.1:c.6306+18_6306+24dup	XP_011531642.1:n.6306+18_6306+24dup
XM_011533341.1:c.6306+18_6306+24dup	XP_011531643.1:n.6306+18_6306+24dup
XM_011533342.1:c.6306+18_6306+24dup	XP_011531644.1:n.6306+18_6306+24dup
XR_940369.1:n.6342+18_6342+24dup
XR_940370.1:n.6342+18_6342+24dup
XR_940371.1:n.6342+18_6342+24dup
XR_940372.1:n.6342+18_6342+24dup
XR_940373.1:n.6342+18_6342+24dup
XR_940374.1:n.6342+18_6342+24dup
XR_940375.1:n.6280+18_6280+24dup
XM_017005688.1:c.6279+18_6279+24dup	XP_016861177.1:n.6279+18_6279+24dup
XM_017005689.1:c.6279+18_6279+24dup	XP_016861178.1:n.6279+18_6279+24dup
XM_017005690.1:c.6279+18_6279+24dup	XP_016861179.1:n.6279+18_6279+24dup
XM_017005691.1:c.6279+18_6279+24dup	XP_016861180.1:n.6279+18_6279+24dup
XM_017005692.1:c.6279+18_6279+24dup	XP_016861181.1:n.6279+18_6279+24dup
XR_001740003.1:n.6315+18_6315+24dup
XR_001740004.1:n.6315+18_6315+24dup
XR_001740005.1:n.6315+18_6315+24dup
XR_001740006.1:n.6315+18_6315+24dup
XR_001740007.1:n.6315+18_6315+24dup
XR_001740008.1:n.6315+18_6315+24dup
XR_001740009.1:n.6253+18_6253+24dup
NM_000094.4:c.6279+18_6279+24dup MANE Select	NP_000085.1:n.6279+18_6279+24dup