Canonical Allele Identifier: CA1363079163
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570017_48570018delinsCA , CM000665.2:g.48570017_48570018delinsCA GRCh38
NC_000003.11:g.48607450_48607451delinsCA , CM000665.1:g.48607450_48607451delinsCA GRCh37
NC_000003.10:g.48582454_48582455delinsCA NCBI36
NG_007065.1:g.30235_30236delinsTG , LRG_286:g.30235_30236delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7486-103_7486-102delinsTG MANE Select ENSP00000506558.1:n.7486-103_7486-102delinsTG
ENST00000328333.12:c.7486-103_7486-102delinsTG ENSP00000332371.8:n.7486-103_7486-102delinsTG
ENST00000422991.1:c.481-103_481-102delinsTG ENSP00000391608.1:n.481-103_481-102delinsTG
ENST00000459756.5:n.309-103_309-102delinsTG
ENST00000467985.1:n.332-103_332-102delinsTG
ENST00000487017.5:n.4125-103_4125-102delinsTG
NM_000094.3:c.7486-103_7486-102delinsTG , LRG_286t1:c.7486-103_7486-102delinsTG NP_000085.1:n.7486-103_7486-102delinsTG
XM_011533336.1:c.7513-103_7513-102delinsTG XP_011531638.1:n.7513-103_7513-102delinsTG
XM_011533337.1:c.7486-103_7486-102delinsTG XP_011531639.1:n.7486-103_7486-102delinsTG
XM_011533338.1:c.7453-103_7453-102delinsTG XP_011531640.1:n.7453-103_7453-102delinsTG
XM_011533339.1:c.7513-103_7513-102delinsTG XP_011531641.1:n.7513-103_7513-102delinsTG
XM_011533342.1:c.*41-103_*41-102delinsTG XP_011531644.1:n.*41-103_*41-102delinsTG
XR_940369.1:n.7549-103_7549-102delinsTG
XR_940370.1:n.7549-103_7549-102delinsTG
XR_940371.1:n.7549-103_7549-102delinsTG
XR_940372.1:n.7523-103_7523-102delinsTG
XM_017005688.1:c.7426-103_7426-102delinsTG XP_016861177.1:n.7426-103_7426-102delinsTG
XM_017005689.1:c.7486-103_7486-102delinsTG XP_016861178.1:n.7486-103_7486-102delinsTG
XM_017005692.1:c.*41-103_*41-102delinsTG XP_016861181.1:n.*41-103_*41-102delinsTG
XR_001740003.1:n.7522-103_7522-102delinsTG
XR_001740004.1:n.7522-103_7522-102delinsTG
XR_001740005.1:n.7522-103_7522-102delinsTG
XR_001740006.1:n.7496-103_7496-102delinsTG
NM_000094.4:c.7486-103_7486-102delinsTG MANE Select NP_000085.1:n.7486-103_7486-102delinsTG