Canonical Allele Identifier: CA1363079439
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs2043819392

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570209_48570210insT , CM000665.2:g.48570209_48570210insT GRCh38
NC_000003.11:g.48607642_48607643insT , CM000665.1:g.48607642_48607643insT GRCh37
NC_000003.10:g.48582646_48582647insT NCBI36
NG_007065.1:g.30043_30044insA , LRG_286:g.30043_30044insA

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7441-32_7441-31insA MANE Select ENSP00000506558.1:n.7441-32_7441-31insA
ENST00000328333.12:c.7441-32_7441-31insA ENSP00000332371.8:n.7441-32_7441-31insA
ENST00000422991.1:c.436-32_436-31insA ENSP00000391608.1:n.436-32_436-31insA
ENST00000459756.5:n.232_233insA
ENST00000467985.1:n.255_256insA
ENST00000487017.5:n.4080-32_4080-31insA
NM_000094.3:c.7441-32_7441-31insA , LRG_286t1:c.7441-32_7441-31insA NP_000085.1:n.7441-32_7441-31insA
XM_011533336.1:c.7468-32_7468-31insA XP_011531638.1:n.7468-32_7468-31insA
XM_011533337.1:c.7441-32_7441-31insA XP_011531639.1:n.7441-32_7441-31insA
XM_011533338.1:c.7408-32_7408-31insA XP_011531640.1:n.7408-32_7408-31insA
XM_011533339.1:c.7468-32_7468-31insA XP_011531641.1:n.7468-32_7468-31insA
XM_011533340.1:c.*10_*11insA XP_011531642.1:n.*10_*11insA
XM_011533341.1:c.7424_7425insA XP_011531643.1:p.Ter2476LeuextTer4
XM_011533342.1:c.7382-32_7382-31insA XP_011531644.1:n.7382-32_7382-31insA
XR_940369.1:n.7504-32_7504-31insA
XR_940370.1:n.7504-32_7504-31insA
XR_940371.1:n.7504-32_7504-31insA
XR_940372.1:n.7478-32_7478-31insA
XM_017005688.1:c.7381-32_7381-31insA XP_016861177.1:n.7381-32_7381-31insA
XM_017005689.1:c.7441-32_7441-31insA XP_016861178.1:n.7441-32_7441-31insA
XM_017005690.1:c.*10_*11insA XP_016861179.1:n.*10_*11insA
XM_017005691.1:c.7397_7398insA XP_016861180.1:p.Ter2467LeuextTer4
XM_017005692.1:c.7355-32_7355-31insA XP_016861181.1:n.7355-32_7355-31insA
XR_001740003.1:n.7477-32_7477-31insA
XR_001740004.1:n.7477-32_7477-31insA
XR_001740005.1:n.7477-32_7477-31insA
XR_001740006.1:n.7451-32_7451-31insA
NM_000094.4:c.7441-32_7441-31insA MANE Select NP_000085.1:n.7441-32_7441-31insA