Canonical Allele Identifier: CA1363077267

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568543_48568545delinsAAC , CM000665.2:g.48568543_48568545delinsAAC	GRCh38
NC_000003.11:g.48605976_48605978delinsAAC , CM000665.1:g.48605976_48605978delinsAAC	GRCh37
NC_000003.10:g.48580980_48580982delinsAAC	NCBI36
NG_007065.1:g.31708_31710delinsGTT , LRG_286:g.31708_31710delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7759-11_7759-9delinsGTT MANE Select	ENSP00000506558.1:n.7759-11_7759-9delinsGTT
ENST00000328333.12:c.7759-11_7759-9delinsGTT	ENSP00000332371.8:n.7759-11_7759-9delinsGTT
ENST00000459756.5:n.582-11_582-9delinsGTT
ENST00000467985.1:n.605-11_605-9delinsGTT
ENST00000487017.5:n.4398-11_4398-9delinsGTT
NM_000094.3:c.7759-11_7759-9delinsGTT , LRG_286t1:c.7759-11_7759-9delinsGTT	NP_000085.1:n.7759-11_7759-9delinsGTT
XM_011533336.1:c.7786-11_7786-9delinsGTT	XP_011531638.1:n.7786-11_7786-9delinsGTT
XM_011533337.1:c.7759-11_7759-9delinsGTT	XP_011531639.1:n.7759-11_7759-9delinsGTT
XM_011533338.1:c.7726-11_7726-9delinsGTT	XP_011531640.1:n.7726-11_7726-9delinsGTT
XM_011533339.1:c.7786-11_7786-9delinsGTT	XP_011531641.1:n.7786-11_7786-9delinsGTT
XR_940369.1:n.7822-11_7822-9delinsGTT
XR_940370.1:n.7822-11_7822-9delinsGTT
XR_940371.1:n.7822-11_7822-9delinsGTT
XR_940372.1:n.7796-11_7796-9delinsGTT
XM_017005688.1:c.7699-11_7699-9delinsGTT	XP_016861177.1:n.7699-11_7699-9delinsGTT
XM_017005689.1:c.7759-11_7759-9delinsGTT	XP_016861178.1:n.7759-11_7759-9delinsGTT
XR_001740003.1:n.7795-11_7795-9delinsGTT
XR_001740004.1:n.7795-11_7795-9delinsGTT
XR_001740005.1:n.7795-11_7795-9delinsGTT
XR_001740006.1:n.7769-11_7769-9delinsGTT
NM_000094.4:c.7759-11_7759-9delinsGTT MANE Select	NP_000085.1:n.7759-11_7759-9delinsGTT