Canonical Allele Identifier: CA116798546

Gene: ADAMTS12

Linked Data

• dbSNP Id: rs146548023
• gnomAD v2: 5-33531483-CAG-C
• gnomAD v3: 5-33531378-CAG-C
• gnomAD v4: 5-33531378-CAG-C
• MyVariant Identifiers: chr5:g.33531484_33531485del (hg19) ; chr5:g.33531379_33531380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33531380_33531381del , CM000667.2:g.33531380_33531381del	GRCh38
NC_000005.9:g.33531485_33531486del , CM000667.1:g.33531485_33531486del	GRCh37
NC_000005.8:g.33567242_33567243del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504830.6:c.4606+3453_4606+3454del MANE Select	ENSP00000422554.1:n.4606+3453_4606+3454del
ENST00000352040.7:c.4351+3453_4351+3454del	ENSP00000344847.3:n.4351+3453_4351+3454del
ENST00000504830.5:c.4606+3453_4606+3454del	ENSP00000422554.1:n.4606+3453_4606+3454del
NM_030955.2:c.4606+3453_4606+3454del	NP_112217.2:n.4606+3453_4606+3454del
XM_011514145.1:c.3835+3453_3835+3454del	XP_011512447.1:n.3835+3453_3835+3454del
XM_011514147.1:c.2692+3453_2692+3454del	XP_011512449.1:n.2692+3453_2692+3454del
NM_001324512.1:c.4351+3453_4351+3454del	NP_001311441.1:n.4351+3453_4351+3454del
NM_030955.3:c.4606+3453_4606+3454del	NP_112217.2:n.4606+3453_4606+3454del
XM_017009905.1:c.4717+3453_4717+3454del	XP_016865394.1:n.4717+3453_4717+3454del
XM_017009906.1:c.4225+3453_4225+3454del	XP_016865395.1:n.4225+3453_4225+3454del
XM_017009907.1:c.3160+3453_3160+3454del	XP_016865396.1:n.3160+3453_3160+3454del
XM_017009908.1:c.2803+3453_2803+3454del	XP_016865397.1:n.2803+3453_2803+3454del
XM_017009909.1:c.2791+3453_2791+3454del	XP_016865398.1:n.2791+3453_2791+3454del
NM_030955.4:c.4606+3453_4606+3454del MANE Select	NP_112217.2:n.4606+3453_4606+3454del
NM_001324512.2:c.4351+3453_4351+3454del	NP_001311441.1:n.4351+3453_4351+3454del