Canonical Allele Identifier: CA2695196041

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567642_48567643delinsGA , CM000665.2:g.48567642_48567643delinsGA	GRCh38
NC_000003.11:g.48605075_48605076delinsGA , CM000665.1:g.48605075_48605076delinsGA	GRCh37
NC_000003.10:g.48580079_48580080delinsGA	NCBI36
NG_007065.1:g.32610_32611delinsTC , LRG_286:g.32610_32611delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7984-7_7984-6delinsTC MANE Select	ENSP00000506558.1:n.7984-7_7984-6delinsTC
ENST00000328333.12:c.7984-7_7984-6delinsTC	ENSP00000332371.8:n.7984-7_7984-6delinsTC
ENST00000487017.5:n.4623-7_4623-6delinsTC
NM_000094.3:c.7984-7_7984-6delinsTC , LRG_286t1:c.7984-7_7984-6delinsTC	NP_000085.1:n.7984-7_7984-6delinsTC
XM_011533336.1:c.8011-7_8011-6delinsTC	XP_011531638.1:n.8011-7_8011-6delinsTC
XM_011533337.1:c.7984-7_7984-6delinsTC	XP_011531639.1:n.7984-7_7984-6delinsTC
XM_011533338.1:c.7951-7_7951-6delinsTC	XP_011531640.1:n.7951-7_7951-6delinsTC
XR_940369.1:n.8047-7_8047-6delinsTC
XR_940370.1:n.8047-7_8047-6delinsTC
XR_940371.1:n.8047-7_8047-6delinsTC
XM_017005688.1:c.7924-7_7924-6delinsTC	XP_016861177.1:n.7924-7_7924-6delinsTC
XR_001740003.1:n.8020-7_8020-6delinsTC
XR_001740004.1:n.8020-7_8020-6delinsTC
XR_001740005.1:n.8020-7_8020-6delinsTC
NM_000094.4:c.7984-7_7984-6delinsTC MANE Select	NP_000085.1:n.7984-7_7984-6delinsTC