Canonical Allele Identifier: CA1363079317

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570128A= , CM000665.2:g.48570128A=	GRCh38
NC_000003.11:g.48607561A= , CM000665.1:g.48607561A=	GRCh37
NC_000003.10:g.48582565A=	NCBI36
NG_007065.1:g.30125T= , LRG_286:g.30125T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7485+6T= MANE Select	ENSP00000506558.1:n.7485+6T=
ENST00000328333.12:c.7485+6T=	ENSP00000332371.8:n.7485+6T=
ENST00000422991.1:c.480+6T=	ENSP00000391608.1:n.480+6T=
ENST00000459756.5:n.308+6T=
ENST00000467985.1:n.331+6T=
ENST00000487017.5:n.4124+6T=
NM_000094.3:c.7485+6T= , LRG_286t1:c.7485+6T=	NP_000085.1:n.7485+6T=
XM_011533336.1:c.7512+6T=	XP_011531638.1:n.7512+6T=
XM_011533337.1:c.7485+6T=	XP_011531639.1:n.7485+6T=
XM_011533338.1:c.7452+6T=	XP_011531640.1:n.7452+6T=
XM_011533339.1:c.7512+6T=	XP_011531641.1:n.7512+6T=
XM_011533342.1:c.*40+6T=	XP_011531644.1:n.*40+6T=
XR_940369.1:n.7548+6T=
XR_940370.1:n.7548+6T=
XR_940371.1:n.7548+6T=
XR_940372.1:n.7522+6T=
XM_017005688.1:c.7425+6T=	XP_016861177.1:n.7425+6T=
XM_017005689.1:c.7485+6T=	XP_016861178.1:n.7485+6T=
XM_017005692.1:c.*40+6T=	XP_016861181.1:n.*40+6T=
XR_001740003.1:n.7521+6T=
XR_001740004.1:n.7521+6T=
XR_001740005.1:n.7521+6T=
XR_001740006.1:n.7495+6T=
NM_000094.4:c.7485+6T= MANE Select	NP_000085.1:n.7485+6T=