Canonical Allele Identifier: CA5540318

Gene: ADAMTS14

Linked Data

• dbSNP Id: rs769859236
• ExAC: 10:72517836 C / CTG
• gnomAD v2: 10-72517836-C-CTG
• gnomAD v4: 10-70758080-C-CTG
• MyVariant Identifiers: chr10:g.72517836_72517837insTG (hg19) ; chr10:g.70758080_70758081insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758080_70758081insTG , CM000672.2:g.70758080_70758081insTG	GRCh38
NC_000010.10:g.72517836_72517837insTG , CM000672.1:g.72517836_72517837insTG	GRCh37
NC_000010.9:g.72187842_72187843insTG	NCBI36
NG_042147.1:g.90278_90279insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.3056_3057insTG MANE Select	ENSP00000362303.1:p.Cys1021ProfsTer11
ENST00000373207.1:c.3056_3057insTG	ENSP00000362303.1:p.Cys1021ProfsTer11
ENST00000373208.5:c.3065_3066insTG	ENSP00000362304.1:p.Cys1024ProfsTer11
NM_080722.3:c.3056_3057insTG	NP_542453.2:p.Cys1021ProfsTer11
NM_139155.2:c.3065_3066insTG	NP_631894.2:p.Cys1024ProfsTer11
XM_011539300.1:c.2555_2556insTG	XP_011537602.1:p.Cys854ProfsTer11
XM_011539301.1:c.2129_2130insTG	XP_011537603.1:p.Cys712ProfsTer11
XM_011539302.1:c.2129_2130insTG	XP_011537604.1:p.Cys712ProfsTer11
XM_011539309.1:c.1625_1626insTG	XP_011537611.1:p.Cys544ProfsTer11
NM_080722.4:c.3056_3057insTG MANE Select	NP_542453.2:p.Cys1021ProfsTer11
NM_139155.3:c.3065_3066insTG	NP_631894.2:p.Cys1024ProfsTer11
XM_011539300.2:c.2555_2556insTG	XP_011537602.1:p.Cys854ProfsTer11
XM_011539301.2:c.2129_2130insTG	XP_011537603.1:p.Cys712ProfsTer11
XM_011539302.2:c.2129_2130insTG	XP_011537604.1:p.Cys712ProfsTer11