Canonical Allele Identifier: CA2609525950

Gene: ADAMTS14

Linked Data

• gnomAD v4: 10-70757989-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70757990del , CM000672.2:g.70757990del	GRCh38
NC_000010.10:g.72517746del , CM000672.1:g.72517746del	GRCh37
NC_000010.9:g.72187752del	NCBI36
NG_042147.1:g.90188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2966del MANE Select	ENSP00000362303.1:p.Gln989ArgfsTer?
ENST00000373207.1:c.2966del	ENSP00000362303.1:p.Gln989ArgfsTer?
ENST00000373208.5:c.2975del	ENSP00000362304.1:p.Gln992ArgfsTer?
NM_080722.3:c.2966del	NP_542453.2:p.Gln989ArgfsTer?
NM_139155.2:c.2975del	NP_631894.2:p.Gln992ArgfsTer?
XM_011539300.1:c.2465del	XP_011537602.1:p.Gln822ArgfsTer?
XM_011539301.1:c.2039del	XP_011537603.1:p.Gln680ArgfsTer?
XM_011539302.1:c.2039del	XP_011537604.1:p.Gln680ArgfsTer?
XM_011539308.1:c.*45del	XP_011537610.1:n.*45del
XM_011539309.1:c.1535del	XP_011537611.1:p.Gln512ArgfsTer?
NM_080722.4:c.2966del MANE Select	NP_542453.2:p.Gln989ArgfsTer?
NM_139155.3:c.2975del	NP_631894.2:p.Gln992ArgfsTer?
XM_011539300.2:c.2465del	XP_011537602.1:p.Gln822ArgfsTer?
XM_011539301.2:c.2039del	XP_011537603.1:p.Gln680ArgfsTer?
XM_011539302.2:c.2039del	XP_011537604.1:p.Gln680ArgfsTer?
XM_011539308.2:c.*45del	XP_011537610.1:n.*45del