Canonical Allele Identifier: CA2580069999
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2033959
ClinVar RCV Id: RCV002872768

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48581615_48581617delinsT , CM000665.2:g.48581615_48581617delinsT GRCh38
NC_000003.11:g.48619048_48619050delinsT , CM000665.1:g.48619048_48619050delinsT GRCh37
NC_000003.10:g.48594052_48594054delinsT NCBI36
NG_007065.1:g.18636_18638delinsA , LRG_286:g.18636_18638delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.4738_4740delinsA MANE Select ENSP00000506558.1:p.Val1580ThrfsTer28
ENST00000328333.12:c.4738_4740delinsA ENSP00000332371.8:p.Val1580ThrfsTer28
ENST00000487017.5:n.655_657delinsA
NM_000094.3:c.4738_4740delinsA , LRG_286t1:c.4738_4740delinsA NP_000085.1:p.Val1580ThrfsTer28
XM_011533336.1:c.4765_4767delinsA XP_011531638.1:p.Val1589ThrfsTer28
XM_011533337.1:c.4738_4740delinsA XP_011531639.1:p.Val1580ThrfsTer28
XM_011533338.1:c.4765_4767delinsA XP_011531640.1:p.Val1589ThrfsTer28
XM_011533339.1:c.4765_4767delinsA XP_011531641.1:p.Val1589ThrfsTer28
XM_011533340.1:c.4765_4767delinsA XP_011531642.1:p.Val1589ThrfsTer28
XM_011533341.1:c.4765_4767delinsA XP_011531643.1:p.Val1589ThrfsTer28
XM_011533342.1:c.4765_4767delinsA XP_011531644.1:p.Val1589ThrfsTer28
XR_940369.1:n.4801_4803delinsA
XR_940370.1:n.4801_4803delinsA
XR_940371.1:n.4801_4803delinsA
XR_940372.1:n.4801_4803delinsA
XR_940373.1:n.4801_4803delinsA
XR_940374.1:n.4801_4803delinsA
XR_940375.1:n.4801_4803delinsA
XM_017005688.1:c.4738_4740delinsA XP_016861177.1:p.Val1580ThrfsTer28
XM_017005689.1:c.4738_4740delinsA XP_016861178.1:p.Val1580ThrfsTer28
XM_017005690.1:c.4738_4740delinsA XP_016861179.1:p.Val1580ThrfsTer28
XM_017005691.1:c.4738_4740delinsA XP_016861180.1:p.Val1580ThrfsTer28
XM_017005692.1:c.4738_4740delinsA XP_016861181.1:p.Val1580ThrfsTer28
XR_001740003.1:n.4774_4776delinsA
XR_001740004.1:n.4774_4776delinsA
XR_001740005.1:n.4774_4776delinsA
XR_001740006.1:n.4774_4776delinsA
XR_001740007.1:n.4774_4776delinsA
XR_001740008.1:n.4774_4776delinsA
XR_001740009.1:n.4774_4776delinsA
NM_000094.4:c.4738_4740delinsA MANE Select NP_000085.1:p.Val1580ThrfsTer28