Canonical Allele Identifier: CA1363076079

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567773_48567777delinsTCAGG , CM000665.2:g.48567773_48567777delinsTCAGG	GRCh38
NC_000003.11:g.48605206_48605210delinsTCAGG , CM000665.1:g.48605206_48605210delinsTCAGG	GRCh37
NC_000003.10:g.48580210_48580214delinsTCAGG	NCBI36
NG_007065.1:g.32476_32480delinsCCTGA , LRG_286:g.32476_32480delinsCCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7930-14_7930-10delinsCCTGA MANE Select	ENSP00000506558.1:n.7930-14_7930-10delinsCCTGA
ENST00000328333.12:c.7930-14_7930-10delinsCCTGA	ENSP00000332371.8:n.7930-14_7930-10delinsCCTGA
ENST00000459756.5:n.753-14_753-10delinsCCTGA
ENST00000487017.5:n.4569-14_4569-10delinsCCTGA
NM_000094.3:c.7930-14_7930-10delinsCCTGA , LRG_286t1:c.7930-14_7930-10delinsCCTGA	NP_000085.1:n.7930-14_7930-10delinsCCTGA
XM_011533336.1:c.7957-14_7957-10delinsCCTGA	XP_011531638.1:n.7957-14_7957-10delinsCCTGA
XM_011533337.1:c.7930-14_7930-10delinsCCTGA	XP_011531639.1:n.7930-14_7930-10delinsCCTGA
XM_011533338.1:c.7897-14_7897-10delinsCCTGA	XP_011531640.1:n.7897-14_7897-10delinsCCTGA
XR_940369.1:n.7993-14_7993-10delinsCCTGA
XR_940370.1:n.7993-14_7993-10delinsCCTGA
XR_940371.1:n.7993-14_7993-10delinsCCTGA
XM_017005688.1:c.7870-14_7870-10delinsCCTGA	XP_016861177.1:n.7870-14_7870-10delinsCCTGA
XR_001740003.1:n.7966-14_7966-10delinsCCTGA
XR_001740004.1:n.7966-14_7966-10delinsCCTGA
XR_001740005.1:n.7966-14_7966-10delinsCCTGA
NM_000094.4:c.7930-14_7930-10delinsCCTGA MANE Select	NP_000085.1:n.7930-14_7930-10delinsCCTGA