Canonical Allele Identifier: CA2841666972
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567892dup , CM000665.2:g.48567892dup GRCh38
NC_000003.11:g.48605325dup , CM000665.1:g.48605325dup GRCh37
NC_000003.10:g.48580329dup NCBI36
NG_007065.1:g.32363dup , LRG_286:g.32363dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7877dup
ENST00000328333.12:c.7877dup
ENST00000459756.5:n.700dup
ENST00000487017.5:n.4516dup
NM_000094.3:c.7877dup , LRG_286t1:c.7877dup
XM_011533336.1:c.7904dup
XM_011533337.1:c.7877dup
XM_011533338.1:c.7844dup
XR_940369.1:n.7940dup
XR_940370.1:n.7940dup
XR_940371.1:n.7940dup
XM_017005688.1:c.7817dup
XR_001740003.1:n.7913dup
XR_001740004.1:n.7913dup
XR_001740005.1:n.7913dup
NM_000094.4:c.7877dup