Canonical Allele Identifier: CA2708397747
Gene: ADAMTS12 HGNC NCBI

Linked Data

dbSNP Id: rs2111768505

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33879480_33879481dup , CM000667.2:g.33879480_33879481dup GRCh38
NC_000005.9:g.33879585_33879586dup , CM000667.1:g.33879585_33879586dup GRCh37
NC_000005.8:g.33915342_33915343dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504830.6:c.489+1640_489+1641dup MANE Select ENSP00000422554.1:n.489+1640_489+1641dup
ENST00000352040.7:c.489+1640_489+1641dup ENSP00000344847.3:n.489+1640_489+1641dup
ENST00000504830.5:c.489+1640_489+1641dup ENSP00000422554.1:n.489+1640_489+1641dup
ENST00000515401.1:c.489+1640_489+1641dup ENSP00000421638.1:n.489+1640_489+1641dup
NM_030955.2:c.489+1640_489+1641dup NP_112217.2:n.489+1640_489+1641dup
XM_011514146.1:c.489+1640_489+1641dup XP_011512448.1:n.489+1640_489+1641dup
XM_011514148.1:c.489+1640_489+1641dup XP_011512450.1:n.489+1640_489+1641dup
XM_011514149.1:c.489+1640_489+1641dup XP_011512451.1:n.489+1640_489+1641dup
NM_001324511.1:c.489+1640_489+1641dup NP_001311440.1:n.489+1640_489+1641dup
NM_001324512.1:c.489+1640_489+1641dup NP_001311441.1:n.489+1640_489+1641dup
NM_030955.3:c.489+1640_489+1641dup NP_112217.2:n.489+1640_489+1641dup
XM_017009905.1:c.489+1640_489+1641dup XP_016865394.1:n.489+1640_489+1641dup
NM_030955.4:c.489+1640_489+1641dup MANE Select NP_112217.2:n.489+1640_489+1641dup
NM_001324511.2:c.489+1640_489+1641dup NP_001311440.1:n.489+1640_489+1641dup
NM_001324512.2:c.489+1640_489+1641dup NP_001311441.1:n.489+1640_489+1641dup