Canonical Allele Identifier: CA1363075910

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567698_48567699delinsGC , CM000665.2:g.48567698_48567699delinsGC	GRCh38
NC_000003.11:g.48605131_48605132delinsGC , CM000665.1:g.48605131_48605132delinsGC	GRCh37
NC_000003.10:g.48580135_48580136delinsGC	NCBI36
NG_007065.1:g.32554_32555delinsGC , LRG_286:g.32554_32555delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7983+11_7983+12delinsGC MANE Select	ENSP00000506558.1:n.7983+11_7983+12delinsGC
ENST00000328333.12:c.7983+11_7983+12delinsGC	ENSP00000332371.8:n.7983+11_7983+12delinsGC
ENST00000459756.5:n.817_818delinsGC
ENST00000487017.5:n.4622+11_4622+12delinsGC
NM_000094.3:c.7983+11_7983+12delinsGC , LRG_286t1:c.7983+11_7983+12delinsGC	NP_000085.1:n.7983+11_7983+12delinsGC
XM_011533336.1:c.8010+11_8010+12delinsGC	XP_011531638.1:n.8010+11_8010+12delinsGC
XM_011533337.1:c.7983+11_7983+12delinsGC	XP_011531639.1:n.7983+11_7983+12delinsGC
XM_011533338.1:c.7950+11_7950+12delinsGC	XP_011531640.1:n.7950+11_7950+12delinsGC
XR_940369.1:n.8046+11_8046+12delinsGC
XR_940370.1:n.8046+11_8046+12delinsGC
XR_940371.1:n.8046+11_8046+12delinsGC
XM_017005688.1:c.7923+11_7923+12delinsGC	XP_016861177.1:n.7923+11_7923+12delinsGC
XR_001740003.1:n.8019+11_8019+12delinsGC
XR_001740004.1:n.8019+11_8019+12delinsGC
XR_001740005.1:n.8019+11_8019+12delinsGC
NM_000094.4:c.7983+11_7983+12delinsGC MANE Select	NP_000085.1:n.7983+11_7983+12delinsGC