Canonical Allele Identifier: CA16042535
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372335
ClinVar RCV Id: RCV000414689
dbSNP Id: rs1057517721
MyVariant Identifiers: chr3:g.48619021del (hg19) chr3:g.48581588del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48581588del , CM000665.2:g.48581588del GRCh38
NC_000003.11:g.48619021del , CM000665.1:g.48619021del GRCh37
NC_000003.10:g.48594025del NCBI36
NG_007065.1:g.18665del , LRG_286:g.18665del

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.4767del MANE Select ENSP00000506558.1:p.Asp1590ThrfsTer?
ENST00000328333.12:c.4767del ENSP00000332371.8:p.Asp1590ThrfsTer?
ENST00000487017.5:n.684del
NM_000094.3:c.4767del , LRG_286t1:c.4767del NP_000085.1:p.Asp1590ThrfsTer?
XM_011533336.1:c.4794del XP_011531638.1:p.Asp1599ThrfsTer?
XM_011533337.1:c.4767del XP_011531639.1:p.Asp1590ThrfsTer?
XM_011533338.1:c.4794del XP_011531640.1:p.Asp1599ThrfsTer?
XM_011533339.1:c.4794del XP_011531641.1:p.Asp1599ThrfsTer?
XM_011533340.1:c.4794del XP_011531642.1:p.Asp1599ThrfsTer?
XM_011533341.1:c.4794del XP_011531643.1:p.Asp1599ThrfsTer?
XM_011533342.1:c.4794del XP_011531644.1:p.Asp1599ThrfsTer?
XR_940369.1:n.4830del
XR_940370.1:n.4830del
XR_940371.1:n.4830del
XR_940372.1:n.4830del
XR_940373.1:n.4830del
XR_940374.1:n.4830del
XR_940375.1:n.4830del
XM_017005688.1:c.4767del XP_016861177.1:p.Asp1590ThrfsTer?
XM_017005689.1:c.4767del XP_016861178.1:p.Asp1590ThrfsTer?
XM_017005690.1:c.4767del XP_016861179.1:p.Asp1590ThrfsTer?
XM_017005691.1:c.4767del XP_016861180.1:p.Asp1590ThrfsTer?
XM_017005692.1:c.4767del XP_016861181.1:p.Asp1590ThrfsTer?
XR_001740003.1:n.4803del
XR_001740004.1:n.4803del
XR_001740005.1:n.4803del
XR_001740006.1:n.4803del
XR_001740007.1:n.4803del
XR_001740008.1:n.4803del
XR_001740009.1:n.4803del
NM_000094.4:c.4767del MANE Select NP_000085.1:p.Asp1590ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'