Canonical Allele Identifier: CA2609526030

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70758030-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758033del , CM000672.2:g.70758033del	GRCh38
NC_000010.10:g.72517789del , CM000672.1:g.72517789del	GRCh37
NC_000010.9:g.72187795del	NCBI36
NG_042147.1:g.90231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3009del MANE Select	ENSP00000362303.1:p.His1004IlefsTer27
ENST00000373207.1:c.3009del	ENSP00000362303.1:p.His1004IlefsTer27
ENST00000373208.5:c.3018del	ENSP00000362304.1:p.His1007IlefsTer27
NM_080722.3:c.3009del	NP_542453.2:p.His1004IlefsTer27
NM_139155.2:c.3018del	NP_631894.2:p.His1007IlefsTer27
XM_011539300.1:c.2508del	XP_011537602.1:p.His837IlefsTer27
XM_011539301.1:c.2082del	XP_011537603.1:p.His695IlefsTer27
XM_011539302.1:c.2082del	XP_011537604.1:p.His695IlefsTer27
XM_011539309.1:c.1578del	XP_011537611.1:p.His527IlefsTer27
NM_080722.4:c.3009del MANE Select	NP_542453.2:p.His1004IlefsTer27
NM_139155.3:c.3018del	NP_631894.2:p.His1007IlefsTer27
XM_011539300.2:c.2508del	XP_011537602.1:p.His837IlefsTer27
XM_011539301.2:c.2082del	XP_011537603.1:p.His695IlefsTer27
XM_011539302.2:c.2082del	XP_011537604.1:p.His695IlefsTer27
XM_011539308.2:c.*88del	XP_011537610.1:n.*88del