Canonical Allele Identifier: CA668031022

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs1399325975
• gnomAD v3: 10-70757995-CG-C
• gnomAD v4: 10-70757995-CG-C
• MyVariant Identifiers: chr10:g.72517752del (hg19) ; chr10:g.70757996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70757997del , CM000672.2:g.70757997del	GRCh38
NC_000010.10:g.72517753del , CM000672.1:g.72517753del	GRCh37
NC_000010.9:g.72187759del	NCBI36
NG_042147.1:g.90195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2973del MANE Select	ENSP00000362303.1:p.Gln992ArgfsTer?
ENST00000373207.1:c.2973del	ENSP00000362303.1:p.Gln992ArgfsTer?
ENST00000373208.5:c.2982del	ENSP00000362304.1:p.Gln995ArgfsTer?
NM_080722.3:c.2973del	NP_542453.2:p.Gln992ArgfsTer?
NM_139155.2:c.2982del	NP_631894.2:p.Gln995ArgfsTer?
XM_011539300.1:c.2472del	XP_011537602.1:p.Gln825ArgfsTer?
XM_011539301.1:c.2046del	XP_011537603.1:p.Gln683ArgfsTer?
XM_011539302.1:c.2046del	XP_011537604.1:p.Gln683ArgfsTer?
XM_011539308.1:c.*52del	XP_011537610.1:n.*52del
XM_011539309.1:c.1542del	XP_011537611.1:p.Gln515ArgfsTer?
NM_080722.4:c.2973del MANE Select	NP_542453.2:p.Gln992ArgfsTer?
NM_139155.3:c.2982del	NP_631894.2:p.Gln995ArgfsTer?
XM_011539300.2:c.2472del	XP_011537602.1:p.Gln825ArgfsTer?
XM_011539301.2:c.2046del	XP_011537603.1:p.Gln683ArgfsTer?
XM_011539302.2:c.2046del	XP_011537604.1:p.Gln683ArgfsTer?
XM_011539308.2:c.*52del	XP_011537610.1:n.*52del