Canonical Allele Identifier: CA1363075636

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567501_48567512delinsCCCATGACCCGA , CM000665.2:g.48567501_48567512delinsCCCATGACCCGA	GRCh38
NC_000003.11:g.48604934_48604945delinsCCCATGACCCGA , CM000665.1:g.48604934_48604945delinsCCCATGACCCGA	GRCh37
NC_000003.10:g.48579938_48579949delinsCCCATGACCCGA	NCBI36
NG_007065.1:g.32741_32752delinsTCGGGTCATGGG , LRG_286:g.32741_32752delinsTCGGGTCATGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8046+62_8046+73delinsTCGGGTCATGGG MANE Select	ENSP00000506558.1:n.8046+62_8046+73delinsTCGGGTCATGGG
ENST00000328333.12:c.8046+62_8046+73delinsTCGGGTCATGGG	ENSP00000332371.8:n.8046+62_8046+73delinsTCGGGTCATGGG
ENST00000487017.5:n.4685+62_4685+73delinsTCGGGTCATGGG
NM_000094.3:c.8046+62_8046+73delinsTCGGGTCATGGG , LRG_286t1:c.8046+62_8046+73delinsTCGGGTCATGGG	NP_000085.1:n.8046+62_8046+73delinsTCGGGTCATGGG
XM_011533336.1:c.8073+62_8073+73delinsTCGGGTCATGGG	XP_011531638.1:n.8073+62_8073+73delinsTCGGGTCATGGG
XM_011533337.1:c.8046+62_8046+73delinsTCGGGTCATGGG	XP_011531639.1:n.8046+62_8046+73delinsTCGGGTCATGGG
XM_011533338.1:c.8013+62_8013+73delinsTCGGGTCATGGG	XP_011531640.1:n.8013+62_8013+73delinsTCGGGTCATGGG
XR_940369.1:n.8109+62_8109+73delinsTCGGGTCATGGG
XR_940370.1:n.8109+62_8109+73delinsTCGGGTCATGGG
XR_940371.1:n.8109+62_8109+73delinsTCGGGTCATGGG
XM_017005688.1:c.7986+62_7986+73delinsTCGGGTCATGGG	XP_016861177.1:n.7986+62_7986+73delinsTCGGGTCATGGG
XR_001740003.1:n.8082+62_8082+73delinsTCGGGTCATGGG
XR_001740004.1:n.8082+62_8082+73delinsTCGGGTCATGGG
XR_001740005.1:n.8082+62_8082+73delinsTCGGGTCATGGG
NM_000094.4:c.8046+62_8046+73delinsTCGGGTCATGGG MANE Select	NP_000085.1:n.8046+62_8046+73delinsTCGGGTCATGGG