Canonical Allele Identifier: CA1363077190

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568505_48568506delinsAC , CM000665.2:g.48568505_48568506delinsAC	GRCh38
NC_000003.11:g.48605938_48605939delinsAC , CM000665.1:g.48605938_48605939delinsAC	GRCh37
NC_000003.10:g.48580942_48580943delinsAC	NCBI36
NG_007065.1:g.31747_31748delinsGT , LRG_286:g.31747_31748delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7787_7788delinsGT MANE Select	ENSP00000506558.1:p.Gly2596=
ENST00000328333.12:c.7787_7788delinsGT	ENSP00000332371.8:p.Gly2596=
ENST00000459756.5:n.610_611delinsGT
ENST00000467985.1:n.633_634delinsGT
ENST00000487017.5:n.4426_4427delinsGT
NM_000094.3:c.7787_7788delinsGT , LRG_286t1:c.7787_7788delinsGT	NP_000085.1:p.Gly2596=
XM_011533336.1:c.7814_7815delinsGT	XP_011531638.1:p.Gly2605=
XM_011533337.1:c.7787_7788delinsGT	XP_011531639.1:p.Gly2596=
XM_011533338.1:c.7754_7755delinsGT	XP_011531640.1:p.Gly2585=
XM_011533339.1:c.7814_7815delinsGT	XP_011531641.1:p.Gly2605=
XR_940369.1:n.7850_7851delinsGT
XR_940370.1:n.7850_7851delinsGT
XR_940371.1:n.7850_7851delinsGT
XR_940372.1:n.7824_7825delinsGT
XM_017005688.1:c.7727_7728delinsGT	XP_016861177.1:p.Gly2576=
XM_017005689.1:c.7787_7788delinsGT	XP_016861178.1:p.Gly2596=
XR_001740003.1:n.7823_7824delinsGT
XR_001740004.1:n.7823_7824delinsGT
XR_001740005.1:n.7823_7824delinsGT
XR_001740006.1:n.7797_7798delinsGT
NM_000094.4:c.7787_7788delinsGT MANE Select	NP_000085.1:p.Gly2596=