Canonical Allele Identifier: CA2665619203

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568172-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568173dup , CM000665.2:g.48568173dup	GRCh38
NC_000003.11:g.48605606dup , CM000665.1:g.48605606dup	GRCh37
NC_000003.10:g.48580610dup	NCBI36
NG_007065.1:g.32080dup , LRG_286:g.32080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7795-3dup MANE Select	ENSP00000506558.1:n.7795-3dup
ENST00000328333.12:c.7795-3dup	ENSP00000332371.8:n.7795-3dup
ENST00000459756.5:n.618-3dup
ENST00000467985.1:n.700dup
ENST00000487017.5:n.4434-3dup
NM_000094.3:c.7795-3dup , LRG_286t1:c.7795-3dup	NP_000085.1:n.7795-3dup
XM_011533336.1:c.7822-3dup	XP_011531638.1:n.7822-3dup
XM_011533337.1:c.7795-3dup	XP_011531639.1:n.7795-3dup
XM_011533338.1:c.7762-3dup	XP_011531640.1:n.7762-3dup
XM_011533339.1:c.*24dup	XP_011531641.1:n.*24dup
XR_940369.1:n.7858-3dup
XR_940370.1:n.7858-3dup
XR_940371.1:n.7858-3dup
XR_940372.1:n.7832-3dup
XM_017005688.1:c.7735-3dup	XP_016861177.1:n.7735-3dup
XM_017005689.1:c.*24dup	XP_016861178.1:n.*24dup
XR_001740003.1:n.7831-3dup
XR_001740004.1:n.7831-3dup
XR_001740005.1:n.7831-3dup
XR_001740006.1:n.7805-3dup
NM_000094.4:c.7795-3dup MANE Select	NP_000085.1:n.7795-3dup