Canonical Allele Identifier: CA2756158285

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48578174_48578175insCCCAAACACACCAACAC , CM000665.2:g.48578174_48578175insCCCAAACACACCAACAC	GRCh38
NC_000003.11:g.48615607_48615608insCCCAAACACACCAACAC , CM000665.1:g.48615607_48615608insCCCAAACACACCAACAC	GRCh37
NC_000003.10:g.48590611_48590612insCCCAAACACACCAACAC	NCBI36
NG_007065.1:g.22078_22079insGTGTTGGTGTGTTTGGG , LRG_286:g.22078_22079insGTGTTGGTGTGTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG MANE Select	ENSP00000506558.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
ENST00000328333.12:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG	ENSP00000332371.8:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
ENST00000487017.5:n.1449+146_1449+147insGTGTTGGTGTGTTTGGG
NM_000094.3:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG , LRG_286t1:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG	NP_000085.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
XM_011533336.1:c.5559+146_5559+147insGTGTTGGTGTGTTTGGG	XP_011531638.1:n.5559+146_5559+147insGTGTTGGTGTGTTTGGG
XM_011533337.1:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG	XP_011531639.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
XM_011533338.1:c.5559+146_5559+147insGTGTTGGTGTGTTTGGG	XP_011531640.1:n.5559+146_5559+147insGTGTTGGTGTGTTTGGG
XM_011533339.1:c.5559+146_5559+147insGTGTTGGTGTGTTTGGG	XP_011531641.1:n.5559+146_5559+147insGTGTTGGTGTGTTTGGG
XM_011533340.1:c.5559+146_5559+147insGTGTTGGTGTGTTTGGG	XP_011531642.1:n.5559+146_5559+147insGTGTTGGTGTGTTTGGG
XM_011533341.1:c.5559+146_5559+147insGTGTTGGTGTGTTTGGG	XP_011531643.1:n.5559+146_5559+147insGTGTTGGTGTGTTTGGG
XM_011533342.1:c.5559+146_5559+147insGTGTTGGTGTGTTTGGG	XP_011531644.1:n.5559+146_5559+147insGTGTTGGTGTGTTTGGG
XR_940369.1:n.5595+146_5595+147insGTGTTGGTGTGTTTGGG
XR_940370.1:n.5595+146_5595+147insGTGTTGGTGTGTTTGGG
XR_940371.1:n.5595+146_5595+147insGTGTTGGTGTGTTTGGG
XR_940372.1:n.5595+146_5595+147insGTGTTGGTGTGTTTGGG
XR_940373.1:n.5595+146_5595+147insGTGTTGGTGTGTTTGGG
XR_940374.1:n.5595+146_5595+147insGTGTTGGTGTGTTTGGG
XR_940375.1:n.5595+146_5595+147insGTGTTGGTGTGTTTGGG
XM_017005688.1:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG	XP_016861177.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
XM_017005689.1:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG	XP_016861178.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
XM_017005690.1:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG	XP_016861179.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
XM_017005691.1:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG	XP_016861180.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
XM_017005692.1:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG	XP_016861181.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG
XR_001740003.1:n.5568+146_5568+147insGTGTTGGTGTGTTTGGG
XR_001740004.1:n.5568+146_5568+147insGTGTTGGTGTGTTTGGG
XR_001740005.1:n.5568+146_5568+147insGTGTTGGTGTGTTTGGG
XR_001740006.1:n.5568+146_5568+147insGTGTTGGTGTGTTTGGG
XR_001740007.1:n.5568+146_5568+147insGTGTTGGTGTGTTTGGG
XR_001740008.1:n.5568+146_5568+147insGTGTTGGTGTGTTTGGG
XR_001740009.1:n.5568+146_5568+147insGTGTTGGTGTGTTTGGG
NM_000094.4:c.5532+146_5532+147insGTGTTGGTGTGTTTGGG MANE Select	NP_000085.1:n.5532+146_5532+147insGTGTTGGTGTGTTTGGG