Canonical Allele Identifier: CA2559345429

Gene: ADAMTS12

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33879764_33879765insAAATGGAAA , CM000667.2:g.33879764_33879765insAAATGGAAA	GRCh38
NC_000005.9:g.33879869_33879870insAAATGGAAA , CM000667.1:g.33879869_33879870insAAATGGAAA	GRCh37
NC_000005.8:g.33915626_33915627insAAATGGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.489+1354_489+1355insTTTCCATTT MANE Select	ENSP00000422554.1:n.489+1354_489+1355insTTTCCATTT
ENST00000352040.7:c.489+1354_489+1355insTTTCCATTT	ENSP00000344847.3:n.489+1354_489+1355insTTTCCATTT
ENST00000504830.5:c.489+1354_489+1355insTTTCCATTT	ENSP00000422554.1:n.489+1354_489+1355insTTTCCATTT
ENST00000515401.1:c.489+1354_489+1355insTTTCCATTT	ENSP00000421638.1:n.489+1354_489+1355insTTTCCATTT
NM_030955.2:c.489+1354_489+1355insTTTCCATTT	NP_112217.2:n.489+1354_489+1355insTTTCCATTT
XM_011514146.1:c.489+1354_489+1355insTTTCCATTT	XP_011512448.1:n.489+1354_489+1355insTTTCCATTT
XM_011514148.1:c.489+1354_489+1355insTTTCCATTT	XP_011512450.1:n.489+1354_489+1355insTTTCCATTT
XM_011514149.1:c.489+1354_489+1355insTTTCCATTT	XP_011512451.1:n.489+1354_489+1355insTTTCCATTT
NM_001324511.1:c.489+1354_489+1355insTTTCCATTT	NP_001311440.1:n.489+1354_489+1355insTTTCCATTT
NM_001324512.1:c.489+1354_489+1355insTTTCCATTT	NP_001311441.1:n.489+1354_489+1355insTTTCCATTT
NM_030955.3:c.489+1354_489+1355insTTTCCATTT	NP_112217.2:n.489+1354_489+1355insTTTCCATTT
XM_017009905.1:c.489+1354_489+1355insTTTCCATTT	XP_016865394.1:n.489+1354_489+1355insTTTCCATTT
NM_030955.4:c.489+1354_489+1355insTTTCCATTT MANE Select	NP_112217.2:n.489+1354_489+1355insTTTCCATTT
NM_001324511.2:c.489+1354_489+1355insTTTCCATTT	NP_001311440.1:n.489+1354_489+1355insTTTCCATTT
NM_001324512.2:c.489+1354_489+1355insTTTCCATTT	NP_001311441.1:n.489+1354_489+1355insTTTCCATTT