Canonical Allele Identifier: CA2670948947
Gene: ADAMTS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313880_72313882del , CM000666.2:g.72313880_72313882del GRCh38
NC_000004.11:g.73179597_73179599del , CM000666.1:g.73179597_73179599del GRCh37
NC_000004.10:g.73398461_73398463del NCBI36
NG_046955.1:g.259921_259923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286657.10:c.1600-57_1600-55del MANE Select ENSP00000286657.4:n.1600-57_1600-55del
ENST00000286657.8:c.1600-57_1600-55del ENSP00000286657.4:n.1600-57_1600-55del
ENST00000622135.1:c.1600-57_1600-55del ENSP00000480055.1:n.1600-57_1600-55del
NM_014243.2:c.1600-57_1600-55del NP_055058.2:n.1600-57_1600-55del
XM_011532421.1:c.1543-57_1543-55del XP_011530723.1:n.1543-57_1543-55del
XM_011532422.1:c.1516-57_1516-55del XP_011530724.1:n.1516-57_1516-55del
XM_011532423.1:c.958-57_958-55del XP_011530725.1:n.958-57_958-55del
XM_011532424.1:c.868-57_868-55del XP_011530726.1:n.868-57_868-55del
XM_011532421.2:c.1543-57_1543-55del XP_011530723.1:n.1543-57_1543-55del
XM_011532422.3:c.1516-57_1516-55del XP_011530724.1:n.1516-57_1516-55del
NM_014243.3:c.1600-57_1600-55del MANE Select NP_055058.2:n.1600-57_1600-55del