Canonical Allele Identifier: CA2665616546

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48566202-G-GGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566210_48566213dup , CM000665.2:g.48566210_48566213dup	GRCh38
NC_000003.11:g.48603643_48603646dup , CM000665.1:g.48603643_48603646dup	GRCh37
NC_000003.10:g.48578647_48578650dup	NCBI36
NG_007065.1:g.34047_34050dup , LRG_286:g.34047_34050dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8407+61_8407+64dup MANE Select	ENSP00000506558.1:n.8407+61_8407+64dup
ENST00000328333.12:c.8407+61_8407+64dup	ENSP00000332371.8:n.8407+61_8407+64dup
ENST00000487017.5:n.5046+61_5046+64dup
NM_000094.3:c.8407+61_8407+64dup , LRG_286t1:c.8407+61_8407+64dup	NP_000085.1:n.8407+61_8407+64dup
XM_011533336.1:c.8434+61_8434+64dup	XP_011531638.1:n.8434+61_8434+64dup
XM_011533337.1:c.8407+61_8407+64dup	XP_011531639.1:n.8407+61_8407+64dup
XM_011533338.1:c.8374+61_8374+64dup	XP_011531640.1:n.8374+61_8374+64dup
XR_940369.1:n.8470+61_8470+64dup
XR_940370.1:n.8470+61_8470+64dup
XR_940371.1:n.8470+61_8470+64dup
XM_017005688.1:c.8347+61_8347+64dup	XP_016861177.1:n.8347+61_8347+64dup
XR_001740003.1:n.8443+61_8443+64dup
XR_001740004.1:n.8443+61_8443+64dup
XR_001740005.1:n.8443+61_8443+64dup
NM_000094.4:c.8407+61_8407+64dup MANE Select	NP_000085.1:n.8407+61_8407+64dup