Canonical Allele Identifier: CA2665621914

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570303-CGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570305_48570307del , CM000665.2:g.48570305_48570307del	GRCh38
NC_000003.11:g.48607738_48607740del , CM000665.1:g.48607738_48607740del	GRCh37
NC_000003.10:g.48582742_48582744del	NCBI36
NG_007065.1:g.29947_29949del , LRG_286:g.29947_29949del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7409_7411del MANE Select	ENSP00000506558.1:p.Pro2470del
ENST00000328333.12:c.7409_7411del	ENSP00000332371.8:p.Pro2470del
ENST00000422991.1:c.404_406del	ENSP00000391608.1:p.Pro135del
ENST00000459756.5:n.136_138del
ENST00000467985.1:n.159_161del
ENST00000487017.5:n.4048_4050del
NM_000094.3:c.7409_7411del , LRG_286t1:c.7409_7411del	NP_000085.1:p.Pro2470del
XM_011533336.1:c.7436_7438del	XP_011531638.1:p.Pro2479del
XM_011533337.1:c.7409_7411del	XP_011531639.1:p.Pro2470del
XM_011533338.1:c.7408-128_7408-126del	XP_011531640.1:n.7408-128_7408-126del
XM_011533339.1:c.7436_7438del	XP_011531641.1:p.Pro2479del
XM_011533340.1:c.7408-54_7408-52del	XP_011531642.1:n.7408-54_7408-52del
XM_011533341.1:c.7382-54_7382-52del	XP_011531643.1:n.7382-54_7382-52del
XM_011533342.1:c.7382-128_7382-126del	XP_011531644.1:n.7382-128_7382-126del
XR_940369.1:n.7472_7474del
XR_940370.1:n.7472_7474del
XR_940371.1:n.7472_7474del
XR_940372.1:n.7446_7448del
XM_017005688.1:c.7381-128_7381-126del	XP_016861177.1:n.7381-128_7381-126del
XM_017005689.1:c.7409_7411del	XP_016861178.1:p.Pro2470del
XM_017005690.1:c.7381-54_7381-52del	XP_016861179.1:n.7381-54_7381-52del
XM_017005691.1:c.7355-54_7355-52del	XP_016861180.1:n.7355-54_7355-52del
XM_017005692.1:c.7355-128_7355-126del	XP_016861181.1:n.7355-128_7355-126del
XR_001740003.1:n.7445_7447del
XR_001740004.1:n.7445_7447del
XR_001740005.1:n.7445_7447del
XR_001740006.1:n.7419_7421del
NM_000094.4:c.7409_7411del MANE Select	NP_000085.1:p.Pro2470del