Canonical Allele Identifier: CA1363076617

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568100_48568101delinsCG , CM000665.2:g.48568100_48568101delinsCG	GRCh38
NC_000003.11:g.48605533_48605534delinsCG , CM000665.1:g.48605533_48605534delinsCG	GRCh37
NC_000003.10:g.48580537_48580538delinsCG	NCBI36
NG_007065.1:g.32152_32153delinsCG , LRG_286:g.32152_32153delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7864_7865delinsCG MANE Select	ENSP00000506558.1:p.Arg2622=
ENST00000328333.12:c.7864_7865delinsCG	ENSP00000332371.8:p.Arg2622=
ENST00000459756.5:n.687_688delinsCG
ENST00000487017.5:n.4503_4504delinsCG
NM_000094.3:c.7864_7865delinsCG , LRG_286t1:c.7864_7865delinsCG	NP_000085.1:p.Arg2622=
XM_011533336.1:c.7891_7892delinsCG	XP_011531638.1:p.Arg2631=
XM_011533337.1:c.7864_7865delinsCG	XP_011531639.1:p.Arg2622=
XM_011533338.1:c.7831_7832delinsCG	XP_011531640.1:p.Arg2611=
XR_940369.1:n.7927_7928delinsCG
XR_940370.1:n.7927_7928delinsCG
XR_940371.1:n.7927_7928delinsCG
XM_017005688.1:c.7804_7805delinsCG	XP_016861177.1:p.Arg2602=
XR_001740003.1:n.7900_7901delinsCG
XR_001740004.1:n.7900_7901delinsCG
XR_001740005.1:n.7900_7901delinsCG
NM_000094.4:c.7864_7865delinsCG MANE Select	NP_000085.1:p.Arg2622=