Canonical Allele Identifier: CA2383990138
Community Standard Title: NM_006988.5(ADAMTS1):c.*994G=
Gene: ADAMTS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.26836585C= , CM000683.2:g.26836585C= GRCh38
NC_000021.8:g.28208904C= , CM000683.1:g.28208904C= GRCh37
NC_000021.7:g.27130775C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006988.5:c.*994G= MANE Select NP_008919.3:n.*994G=
ENST00000284984.8:c.*994G= MANE Select ENSP00000284984.2:n.*994G=
NM_006988.4:c.*994G= NP_008919.3:n.*994G=
ENST00000284984.7:c.*994G= ENSP00000284984.2:n.*994G=
ENST00000451462.6:c.*994G= ENSP00000403404.2:n.*994G=
ENST00000464589.1:n.4420G=
ENST00000517777.6:c.*994G= ENSP00000429557.2:n.*994G=
ENST00000676955.1:c.*994G= ENSP00000503982.1:n.*994G=
ENST00000677958.1:c.*2138G= ENSP00000503777.1:n.*2138G=
ENST00000678221.1:c.*994G= ENSP00000503862.1:n.*994G=
ENST00000679152.1:c.*994G= ENSP00000504463.1:n.*994G=
ENST00000679316.1:n.5539G=