Canonical Allele Identifier: CA2577587630

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567608_48567610del , CM000665.2:g.48567608_48567610del	GRCh38
NC_000003.11:g.48605041_48605043del , CM000665.1:g.48605041_48605043del	GRCh37
NC_000003.10:g.48580045_48580047del	NCBI36
NG_007065.1:g.32645_32647del , LRG_286:g.32645_32647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8012_8014del MANE Select	ENSP00000506558.1:p.Gly2671del
ENST00000328333.12:c.8012_8014del	ENSP00000332371.8:p.Gly2671del
ENST00000487017.5:n.4651_4653del
NM_000094.3:c.8012_8014del , LRG_286t1:c.8012_8014del	NP_000085.1:p.Gly2671del
XM_011533336.1:c.8039_8041del	XP_011531638.1:p.Gly2680del
XM_011533337.1:c.8012_8014del	XP_011531639.1:p.Gly2671del
XM_011533338.1:c.7979_7981del	XP_011531640.1:p.Gly2660del
XR_940369.1:n.8075_8077del
XR_940370.1:n.8075_8077del
XR_940371.1:n.8075_8077del
XM_017005688.1:c.7952_7954del	XP_016861177.1:p.Gly2651del
XR_001740003.1:n.8048_8050del
XR_001740004.1:n.8048_8050del
XR_001740005.1:n.8048_8050del
NM_000094.4:c.8012_8014del MANE Select	NP_000085.1:p.Gly2671del