Canonical Allele Identifier: CA2670948930
Gene: ADAMTS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.72313653_72313655del , CM000666.2:g.72313653_72313655del GRCh38
NC_000004.11:g.73179370_73179372del , CM000666.1:g.73179370_73179372del GRCh37
NC_000004.10:g.73398234_73398236del NCBI36
NG_046955.1:g.260147_260149del

Transcript Alleles

HGVS Amino-acid change
ENST00000286657.10:c.1745+24_1745+26del MANE Select ENSP00000286657.4:n.1745+24_1745+26del
ENST00000286657.8:c.1745+24_1745+26del ENSP00000286657.4:n.1745+24_1745+26del
ENST00000622135.1:c.1745+24_1745+26del ENSP00000480055.1:n.1745+24_1745+26del
NM_014243.2:c.1745+24_1745+26del NP_055058.2:n.1745+24_1745+26del
XM_011532421.1:c.1688+24_1688+26del XP_011530723.1:n.1688+24_1688+26del
XM_011532422.1:c.1661+24_1661+26del XP_011530724.1:n.1661+24_1661+26del
XM_011532423.1:c.1103+24_1103+26del XP_011530725.1:n.1103+24_1103+26del
XM_011532424.1:c.1013+24_1013+26del XP_011530726.1:n.1013+24_1013+26del
XM_011532421.2:c.1688+24_1688+26del XP_011530723.1:n.1688+24_1688+26del
XM_011532422.3:c.1661+24_1661+26del XP_011530724.1:n.1661+24_1661+26del
NM_014243.3:c.1745+24_1745+26del MANE Select NP_055058.2:n.1745+24_1745+26del