Canonical Allele Identifier: CA1363075621

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567485_48567486delinsTC , CM000665.2:g.48567485_48567486delinsTC	GRCh38
NC_000003.11:g.48604918_48604919delinsTC , CM000665.1:g.48604918_48604919delinsTC	GRCh37
NC_000003.10:g.48579922_48579923delinsTC	NCBI36
NG_007065.1:g.32767_32768delinsGA , LRG_286:g.32767_32768delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8046+88_8046+89delinsGA MANE Select	ENSP00000506558.1:n.8046+88_8046+89delinsGA
ENST00000328333.12:c.8046+88_8046+89delinsGA	ENSP00000332371.8:n.8046+88_8046+89delinsGA
ENST00000487017.5:n.4685+88_4685+89delinsGA
NM_000094.3:c.8046+88_8046+89delinsGA , LRG_286t1:c.8046+88_8046+89delinsGA	NP_000085.1:n.8046+88_8046+89delinsGA
XM_011533336.1:c.8073+88_8073+89delinsGA	XP_011531638.1:n.8073+88_8073+89delinsGA
XM_011533337.1:c.8046+88_8046+89delinsGA	XP_011531639.1:n.8046+88_8046+89delinsGA
XM_011533338.1:c.8013+88_8013+89delinsGA	XP_011531640.1:n.8013+88_8013+89delinsGA
XR_940369.1:n.8109+88_8109+89delinsGA
XR_940370.1:n.8109+88_8109+89delinsGA
XR_940371.1:n.8109+88_8109+89delinsGA
XM_017005688.1:c.7986+88_7986+89delinsGA	XP_016861177.1:n.7986+88_7986+89delinsGA
XR_001740003.1:n.8082+88_8082+89delinsGA
XR_001740004.1:n.8082+88_8082+89delinsGA
XR_001740005.1:n.8082+88_8082+89delinsGA
NM_000094.4:c.8046+88_8046+89delinsGA MANE Select	NP_000085.1:n.8046+88_8046+89delinsGA