Canonical Allele Identifier: CA1363080219
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs2044893396

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48583078_48583079insC , CM000665.2:g.48583078_48583079insC GRCh38
NC_000003.11:g.48620511_48620512insC , CM000665.1:g.48620511_48620512insC GRCh37
NC_000003.10:g.48595515_48595516insC NCBI36
NG_007065.1:g.17174_17175insG , LRG_286:g.17174_17175insG

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.4483-31_4483-30insG MANE Select ENSP00000506558.1:n.4483-31_4483-30insG
ENST00000328333.12:c.4483-31_4483-30insG ENSP00000332371.8:n.4483-31_4483-30insG
ENST00000487017.5:n.400-31_400-30insG
NM_000094.3:c.4483-31_4483-30insG , LRG_286t1:c.4483-31_4483-30insG NP_000085.1:n.4483-31_4483-30insG
XM_011533336.1:c.4510-31_4510-30insG XP_011531638.1:n.4510-31_4510-30insG
XM_011533337.1:c.4483-31_4483-30insG XP_011531639.1:n.4483-31_4483-30insG
XM_011533338.1:c.4510-31_4510-30insG XP_011531640.1:n.4510-31_4510-30insG
XM_011533339.1:c.4510-31_4510-30insG XP_011531641.1:n.4510-31_4510-30insG
XM_011533340.1:c.4510-31_4510-30insG XP_011531642.1:n.4510-31_4510-30insG
XM_011533341.1:c.4510-31_4510-30insG XP_011531643.1:n.4510-31_4510-30insG
XM_011533342.1:c.4510-31_4510-30insG XP_011531644.1:n.4510-31_4510-30insG
XR_940369.1:n.4546-31_4546-30insG
XR_940370.1:n.4546-31_4546-30insG
XR_940371.1:n.4546-31_4546-30insG
XR_940372.1:n.4546-31_4546-30insG
XR_940373.1:n.4546-31_4546-30insG
XR_940374.1:n.4546-31_4546-30insG
XR_940375.1:n.4546-31_4546-30insG
XM_017005688.1:c.4483-31_4483-30insG XP_016861177.1:n.4483-31_4483-30insG
XM_017005689.1:c.4483-31_4483-30insG XP_016861178.1:n.4483-31_4483-30insG
XM_017005690.1:c.4483-31_4483-30insG XP_016861179.1:n.4483-31_4483-30insG
XM_017005691.1:c.4483-31_4483-30insG XP_016861180.1:n.4483-31_4483-30insG
XM_017005692.1:c.4483-31_4483-30insG XP_016861181.1:n.4483-31_4483-30insG
XR_001740003.1:n.4519-31_4519-30insG
XR_001740004.1:n.4519-31_4519-30insG
XR_001740005.1:n.4519-31_4519-30insG
XR_001740006.1:n.4519-31_4519-30insG
XR_001740007.1:n.4519-31_4519-30insG
XR_001740008.1:n.4519-31_4519-30insG
XR_001740009.1:n.4519-31_4519-30insG
NM_000094.4:c.4483-31_4483-30insG MANE Select NP_000085.1:n.4483-31_4483-30insG