Canonical Allele Identifier: CA2665621892

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570268-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570269dup , CM000665.2:g.48570269dup	GRCh38
NC_000003.11:g.48607702dup , CM000665.1:g.48607702dup	GRCh37
NC_000003.10:g.48582706dup	NCBI36
NG_007065.1:g.29984dup , LRG_286:g.29984dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7440+6dup MANE Select	ENSP00000506558.1:n.7440+6dup
ENST00000328333.12:c.7440+6dup	ENSP00000332371.8:n.7440+6dup
ENST00000422991.1:c.435+6dup	ENSP00000391608.1:n.435+6dup
ENST00000459756.5:n.173dup
ENST00000467985.1:n.196dup
ENST00000487017.5:n.4079+6dup
NM_000094.3:c.7440+6dup , LRG_286t1:c.7440+6dup	NP_000085.1:n.7440+6dup
XM_011533336.1:c.7467+6dup	XP_011531638.1:n.7467+6dup
XM_011533337.1:c.7440+6dup	XP_011531639.1:n.7440+6dup
XM_011533338.1:c.7408-91dup	XP_011531640.1:n.7408-91dup
XM_011533339.1:c.7467+6dup	XP_011531641.1:n.7467+6dup
XM_011533340.1:c.7408-17dup	XP_011531642.1:n.7408-17dup
XM_011533341.1:c.7382-17dup	XP_011531643.1:n.7382-17dup
XM_011533342.1:c.7382-91dup	XP_011531644.1:n.7382-91dup
XR_940369.1:n.7503+6dup
XR_940370.1:n.7503+6dup
XR_940371.1:n.7503+6dup
XR_940372.1:n.7477+6dup
XM_017005688.1:c.7381-91dup	XP_016861177.1:n.7381-91dup
XM_017005689.1:c.7440+6dup	XP_016861178.1:n.7440+6dup
XM_017005690.1:c.7381-17dup	XP_016861179.1:n.7381-17dup
XM_017005691.1:c.7355-17dup	XP_016861180.1:n.7355-17dup
XM_017005692.1:c.7355-91dup	XP_016861181.1:n.7355-91dup
XR_001740003.1:n.7476+6dup
XR_001740004.1:n.7476+6dup
XR_001740005.1:n.7476+6dup
XR_001740006.1:n.7450+6dup
NM_000094.4:c.7440+6dup MANE Select	NP_000085.1:n.7440+6dup