Canonical Allele Identifier: CA1537997207

Gene: ADAMTS12

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33530351_33530352delinsGT , CM000667.2:g.33530351_33530352delinsGT	GRCh38
NC_000005.9:g.33530456_33530457delinsGT , CM000667.1:g.33530456_33530457delinsGT	GRCh37
NC_000005.8:g.33566213_33566214delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.4607-2986_4607-2985delinsAC MANE Select	ENSP00000422554.1:n.4607-2986_4607-2985delinsAC
ENST00000352040.7:c.4352-2986_4352-2985delinsAC	ENSP00000344847.3:n.4352-2986_4352-2985delinsAC
ENST00000504830.5:c.4607-2986_4607-2985delinsAC	ENSP00000422554.1:n.4607-2986_4607-2985delinsAC
NM_030955.2:c.4607-2986_4607-2985delinsAC	NP_112217.2:n.4607-2986_4607-2985delinsAC
XM_011514145.1:c.3836-2986_3836-2985delinsAC	XP_011512447.1:n.3836-2986_3836-2985delinsAC
XM_011514147.1:c.2693-2986_2693-2985delinsAC	XP_011512449.1:n.2693-2986_2693-2985delinsAC
NM_001324512.1:c.4352-2986_4352-2985delinsAC	NP_001311441.1:n.4352-2986_4352-2985delinsAC
NM_030955.3:c.4607-2986_4607-2985delinsAC	NP_112217.2:n.4607-2986_4607-2985delinsAC
XM_017009905.1:c.4718-2986_4718-2985delinsAC	XP_016865394.1:n.4718-2986_4718-2985delinsAC
XM_017009906.1:c.4226-2986_4226-2985delinsAC	XP_016865395.1:n.4226-2986_4226-2985delinsAC
XM_017009907.1:c.3161-2986_3161-2985delinsAC	XP_016865396.1:n.3161-2986_3161-2985delinsAC
XM_017009908.1:c.2804-2986_2804-2985delinsAC	XP_016865397.1:n.2804-2986_2804-2985delinsAC
XM_017009909.1:c.2792-2986_2792-2985delinsAC	XP_016865398.1:n.2792-2986_2792-2985delinsAC
NM_030955.4:c.4607-2986_4607-2985delinsAC MANE Select	NP_112217.2:n.4607-2986_4607-2985delinsAC
NM_001324512.2:c.4352-2986_4352-2985delinsAC	NP_001311441.1:n.4352-2986_4352-2985delinsAC