Canonical Allele Identifier: CA2665621852
Gene: COL7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570224_48570225del , CM000665.2:g.48570224_48570225del GRCh38
NC_000003.11:g.48607657_48607658del , CM000665.1:g.48607657_48607658del GRCh37
NC_000003.10:g.48582661_48582662del NCBI36
NG_007065.1:g.30030_30031del , LRG_286:g.30030_30031del

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7441-45_7441-44del MANE Select ENSP00000506558.1:n.7441-45_7441-44del
ENST00000328333.12:c.7441-45_7441-44del ENSP00000332371.8:n.7441-45_7441-44del
ENST00000422991.1:c.436-45_436-44del ENSP00000391608.1:n.436-45_436-44del
ENST00000459756.5:n.219_220del
ENST00000467985.1:n.242_243del
ENST00000487017.5:n.4080-45_4080-44del
NM_000094.3:c.7441-45_7441-44del , LRG_286t1:c.7441-45_7441-44del NP_000085.1:n.7441-45_7441-44del
XM_011533336.1:c.7468-45_7468-44del XP_011531638.1:n.7468-45_7468-44del
XM_011533337.1:c.7441-45_7441-44del XP_011531639.1:n.7441-45_7441-44del
XM_011533338.1:c.7408-45_7408-44del XP_011531640.1:n.7408-45_7408-44del
XM_011533339.1:c.7468-45_7468-44del XP_011531641.1:n.7468-45_7468-44del
XM_011533340.1:c.7437_7438del XP_011531642.1:p.Ter2480IleextTer5
XM_011533341.1:c.7411_7412del XP_011531643.1:p.Leu2471AspfsTer8
XM_011533342.1:c.7382-45_7382-44del XP_011531644.1:n.7382-45_7382-44del
XR_940369.1:n.7504-45_7504-44del
XR_940370.1:n.7504-45_7504-44del
XR_940371.1:n.7504-45_7504-44del
XR_940372.1:n.7478-45_7478-44del
XM_017005688.1:c.7381-45_7381-44del XP_016861177.1:n.7381-45_7381-44del
XM_017005689.1:c.7441-45_7441-44del XP_016861178.1:n.7441-45_7441-44del
XM_017005690.1:c.7410_7411del XP_016861179.1:p.Ter2471IleextTer5
XM_017005691.1:c.7384_7385del XP_016861180.1:p.Leu2462AspfsTer8
XM_017005692.1:c.7355-45_7355-44del XP_016861181.1:n.7355-45_7355-44del
XR_001740003.1:n.7477-45_7477-44del
XR_001740004.1:n.7477-45_7477-44del
XR_001740005.1:n.7477-45_7477-44del
XR_001740006.1:n.7451-45_7451-44del
NM_000094.4:c.7441-45_7441-44del MANE Select NP_000085.1:n.7441-45_7441-44del