Canonical Allele Identifier: CA810023070

Gene: ADAMTS12

Linked Data

• dbSNP Id: rs1475203883
• MyVariant Identifiers: chr5:g.33879787_33879788del (hg19) ; chr5:g.33879682_33879683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33879684_33879685del , CM000667.2:g.33879684_33879685del	GRCh38
NC_000005.9:g.33879789_33879790del , CM000667.1:g.33879789_33879790del	GRCh37
NC_000005.8:g.33915546_33915547del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.489+1436_489+1437del MANE Select	ENSP00000422554.1:n.489+1436_489+1437del
ENST00000352040.7:c.489+1436_489+1437del	ENSP00000344847.3:n.489+1436_489+1437del
ENST00000504830.5:c.489+1436_489+1437del	ENSP00000422554.1:n.489+1436_489+1437del
ENST00000515401.1:c.489+1436_489+1437del	ENSP00000421638.1:n.489+1436_489+1437del
NM_030955.2:c.489+1436_489+1437del	NP_112217.2:n.489+1436_489+1437del
XM_011514146.1:c.489+1436_489+1437del	XP_011512448.1:n.489+1436_489+1437del
XM_011514148.1:c.489+1436_489+1437del	XP_011512450.1:n.489+1436_489+1437del
XM_011514149.1:c.489+1436_489+1437del	XP_011512451.1:n.489+1436_489+1437del
NM_001324511.1:c.489+1436_489+1437del	NP_001311440.1:n.489+1436_489+1437del
NM_001324512.1:c.489+1436_489+1437del	NP_001311441.1:n.489+1436_489+1437del
NM_030955.3:c.489+1436_489+1437del	NP_112217.2:n.489+1436_489+1437del
XM_017009905.1:c.489+1436_489+1437del	XP_016865394.1:n.489+1436_489+1437del
NM_030955.4:c.489+1436_489+1437del MANE Select	NP_112217.2:n.489+1436_489+1437del
NM_001324511.2:c.489+1436_489+1437del	NP_001311440.1:n.489+1436_489+1437del
NM_001324512.2:c.489+1436_489+1437del	NP_001311441.1:n.489+1436_489+1437del