Canonical Allele Identifier: CA2756157903

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567667dup , CM000665.2:g.48567667dup	GRCh38
NC_000003.11:g.48605100dup , CM000665.1:g.48605100dup	GRCh37
NC_000003.10:g.48580104dup	NCBI36
NG_007065.1:g.32590dup , LRG_286:g.32590dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7984-27dup MANE Select	ENSP00000506558.1:n.7984-27dup
ENST00000328333.12:c.7984-27dup	ENSP00000332371.8:n.7984-27dup
ENST00000487017.5:n.4623-27dup
NM_000094.3:c.7984-27dup , LRG_286t1:c.7984-27dup	NP_000085.1:n.7984-27dup
XM_011533336.1:c.8011-27dup	XP_011531638.1:n.8011-27dup
XM_011533337.1:c.7984-27dup	XP_011531639.1:n.7984-27dup
XM_011533338.1:c.7951-27dup	XP_011531640.1:n.7951-27dup
XR_940369.1:n.8047-27dup
XR_940370.1:n.8047-27dup
XR_940371.1:n.8047-27dup
XM_017005688.1:c.7924-27dup	XP_016861177.1:n.7924-27dup
XR_001740003.1:n.8020-27dup
XR_001740004.1:n.8020-27dup
XR_001740005.1:n.8020-27dup
NM_000094.4:c.7984-27dup MANE Select	NP_000085.1:n.7984-27dup