Canonical Allele Identifier: CA559099464

Gene: ADAMTS12

Linked Data

• dbSNP Id: rs1479494942
• gnomAD v2: 5-33879651-T-TC
• gnomAD v3: 5-33879546-T-TC
• gnomAD v4: 5-33879546-T-TC
• MyVariant Identifiers: chr5:g.33879651_33879652insC (hg19) ; chr5:g.33879546_33879547insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33879547dup , CM000667.2:g.33879547dup	GRCh38
NC_000005.9:g.33879652dup , CM000667.1:g.33879652dup	GRCh37
NC_000005.8:g.33915409dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.489+1572dup MANE Select	ENSP00000422554.1:n.489+1572dup
ENST00000352040.7:c.489+1572dup	ENSP00000344847.3:n.489+1572dup
ENST00000504830.5:c.489+1572dup	ENSP00000422554.1:n.489+1572dup
ENST00000515401.1:c.489+1572dup	ENSP00000421638.1:n.489+1572dup
NM_030955.2:c.489+1572dup	NP_112217.2:n.489+1572dup
XM_011514146.1:c.489+1572dup	XP_011512448.1:n.489+1572dup
XM_011514148.1:c.489+1572dup	XP_011512450.1:n.489+1572dup
XM_011514149.1:c.489+1572dup	XP_011512451.1:n.489+1572dup
NM_001324511.1:c.489+1572dup	NP_001311440.1:n.489+1572dup
NM_001324512.1:c.489+1572dup	NP_001311441.1:n.489+1572dup
NM_030955.3:c.489+1572dup	NP_112217.2:n.489+1572dup
XM_017009905.1:c.489+1572dup	XP_016865394.1:n.489+1572dup
NM_030955.4:c.489+1572dup MANE Select	NP_112217.2:n.489+1572dup
NM_001324511.2:c.489+1572dup	NP_001311440.1:n.489+1572dup
NM_001324512.2:c.489+1572dup	NP_001311441.1:n.489+1572dup