Canonical Allele Identifier: CA2379461

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1144899
• ClinVar RCV Id: RCV001483558
• dbSNP Id: rs759445274
• ExAC: 3:48615743 GACAC / G
• gnomAD v2: 3-48615743-GACAC-G
• gnomAD v3: 3-48578310-GACAC-G
• gnomAD v4: 3-48578310-GACAC-G
• MyVariant Identifiers: chr3:g.48615744_48615747del (hg19) ; chr3:g.48578311_48578314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48578313_48578316del , CM000665.2:g.48578313_48578316del	GRCh38
NC_000003.11:g.48615746_48615749del , CM000665.1:g.48615746_48615749del	GRCh37
NC_000003.10:g.48590750_48590753del	NCBI36
NG_007065.1:g.21939_21942del , LRG_286:g.21939_21942del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.5532+7_5532+10del MANE Select	ENSP00000506558.1:n.5532+7_5532+10del
ENST00000328333.12:c.5532+7_5532+10del	ENSP00000332371.8:n.5532+7_5532+10del
ENST00000487017.5:n.1449+7_1449+10del
NM_000094.3:c.5532+7_5532+10del , LRG_286t1:c.5532+7_5532+10del	NP_000085.1:n.5532+7_5532+10del
XM_011533336.1:c.5559+7_5559+10del	XP_011531638.1:n.5559+7_5559+10del
XM_011533337.1:c.5532+7_5532+10del	XP_011531639.1:n.5532+7_5532+10del
XM_011533338.1:c.5559+7_5559+10del	XP_011531640.1:n.5559+7_5559+10del
XM_011533339.1:c.5559+7_5559+10del	XP_011531641.1:n.5559+7_5559+10del
XM_011533340.1:c.5559+7_5559+10del	XP_011531642.1:n.5559+7_5559+10del
XM_011533341.1:c.5559+7_5559+10del	XP_011531643.1:n.5559+7_5559+10del
XM_011533342.1:c.5559+7_5559+10del	XP_011531644.1:n.5559+7_5559+10del
XR_940369.1:n.5595+7_5595+10del
XR_940370.1:n.5595+7_5595+10del
XR_940371.1:n.5595+7_5595+10del
XR_940372.1:n.5595+7_5595+10del
XR_940373.1:n.5595+7_5595+10del
XR_940374.1:n.5595+7_5595+10del
XR_940375.1:n.5595+7_5595+10del
XM_017005688.1:c.5532+7_5532+10del	XP_016861177.1:n.5532+7_5532+10del
XM_017005689.1:c.5532+7_5532+10del	XP_016861178.1:n.5532+7_5532+10del
XM_017005690.1:c.5532+7_5532+10del	XP_016861179.1:n.5532+7_5532+10del
XM_017005691.1:c.5532+7_5532+10del	XP_016861180.1:n.5532+7_5532+10del
XM_017005692.1:c.5532+7_5532+10del	XP_016861181.1:n.5532+7_5532+10del
XR_001740003.1:n.5568+7_5568+10del
XR_001740004.1:n.5568+7_5568+10del
XR_001740005.1:n.5568+7_5568+10del
XR_001740006.1:n.5568+7_5568+10del
XR_001740007.1:n.5568+7_5568+10del
XR_001740008.1:n.5568+7_5568+10del
XR_001740009.1:n.5568+7_5568+10del
NM_000094.4:c.5532+7_5532+10del MANE Select	NP_000085.1:n.5532+7_5532+10del