Canonical Allele Identifier: CA73979898

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 798918
• ClinVar RCV Id: RCV000982489
• dbSNP Id: rs904593332
• MyVariant Identifiers: chr3:g.48620438_48620439del (hg19) ; chr3:g.48583005_48583006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48583006_48583007del , CM000665.2:g.48583006_48583007del	GRCh38
NC_000003.11:g.48620439_48620440del , CM000665.1:g.48620439_48620440del	GRCh37
NC_000003.10:g.48595443_48595444del	NCBI36
NG_007065.1:g.17247_17248del , LRG_286:g.17247_17248del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.4518+7_4518+8del MANE Select	ENSP00000506558.1:n.4518+7_4518+8del
ENST00000328333.12:c.4518+7_4518+8del	ENSP00000332371.8:n.4518+7_4518+8del
ENST00000487017.5:n.435+7_435+8del
NM_000094.3:c.4518+7_4518+8del , LRG_286t1:c.4518+7_4518+8del	NP_000085.1:n.4518+7_4518+8del
XM_011533336.1:c.4545+7_4545+8del	XP_011531638.1:n.4545+7_4545+8del
XM_011533337.1:c.4518+7_4518+8del	XP_011531639.1:n.4518+7_4518+8del
XM_011533338.1:c.4545+7_4545+8del	XP_011531640.1:n.4545+7_4545+8del
XM_011533339.1:c.4545+7_4545+8del	XP_011531641.1:n.4545+7_4545+8del
XM_011533340.1:c.4545+7_4545+8del	XP_011531642.1:n.4545+7_4545+8del
XM_011533341.1:c.4545+7_4545+8del	XP_011531643.1:n.4545+7_4545+8del
XM_011533342.1:c.4545+7_4545+8del	XP_011531644.1:n.4545+7_4545+8del
XR_940369.1:n.4581+7_4581+8del
XR_940370.1:n.4581+7_4581+8del
XR_940371.1:n.4581+7_4581+8del
XR_940372.1:n.4581+7_4581+8del
XR_940373.1:n.4581+7_4581+8del
XR_940374.1:n.4581+7_4581+8del
XR_940375.1:n.4581+7_4581+8del
XM_017005688.1:c.4518+7_4518+8del	XP_016861177.1:n.4518+7_4518+8del
XM_017005689.1:c.4518+7_4518+8del	XP_016861178.1:n.4518+7_4518+8del
XM_017005690.1:c.4518+7_4518+8del	XP_016861179.1:n.4518+7_4518+8del
XM_017005691.1:c.4518+7_4518+8del	XP_016861180.1:n.4518+7_4518+8del
XM_017005692.1:c.4518+7_4518+8del	XP_016861181.1:n.4518+7_4518+8del
XR_001740003.1:n.4554+7_4554+8del
XR_001740004.1:n.4554+7_4554+8del
XR_001740005.1:n.4554+7_4554+8del
XR_001740006.1:n.4554+7_4554+8del
XR_001740007.1:n.4554+7_4554+8del
XR_001740008.1:n.4554+7_4554+8del
XR_001740009.1:n.4554+7_4554+8del
NM_000094.4:c.4518+7_4518+8del MANE Select	NP_000085.1:n.4518+7_4518+8del