Canonical Allele Identifier: CA1363075932

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567708A= , CM000665.2:g.48567708A=	GRCh38
NC_000003.11:g.48605141A= , CM000665.1:g.48605141A=	GRCh37
NC_000003.10:g.48580145A=	NCBI36
NG_007065.1:g.32545T= , LRG_286:g.32545T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7983+2T= MANE Select	ENSP00000506558.1:n.7983+2T=
ENST00000328333.12:c.7983+2T=	ENSP00000332371.8:n.7983+2T=
ENST00000459756.5:n.808T=
ENST00000487017.5:n.4622+2T=
NM_000094.3:c.7983+2T= , LRG_286t1:c.7983+2T=	NP_000085.1:n.7983+2T=
XM_011533336.1:c.8010+2T=	XP_011531638.1:n.8010+2T=
XM_011533337.1:c.7983+2T=	XP_011531639.1:n.7983+2T=
XM_011533338.1:c.7950+2T=	XP_011531640.1:n.7950+2T=
XR_940369.1:n.8046+2T=
XR_940370.1:n.8046+2T=
XR_940371.1:n.8046+2T=
XM_017005688.1:c.7923+2T=	XP_016861177.1:n.7923+2T=
XR_001740003.1:n.8019+2T=
XR_001740004.1:n.8019+2T=
XR_001740005.1:n.8019+2T=
NM_000094.4:c.7983+2T= MANE Select	NP_000085.1:n.7983+2T=