Linked Data
ClinVar Variation Id:
39058
dbSNP Id:
rs281864999
gnomAD v2:
12-102158001-CT-C
gnomAD v4:
12-101764223-CT-C
COSMIC:
COSM1358184
MyVariant Identifiers:
chr12:g.102158004del (hg19)
chr12:g.102158002del (hg19)
chr12:g.101764224del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764231del , CM000674.2:g.101764231del | GRCh38 |
| NC_000012.11:g.102158009del , CM000674.1:g.102158009del | GRCh37 |
| NC_000012.10:g.100682140del | NCBI36 |
| NG_021243.1:g.71644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2693del MANE Select | ENSP00000299314.7:p.Lys898SerfsTer13 | |
| ENST00000299314.11:c.2693del | ENSP00000299314.7:p.Lys898SerfsTer13 | |
| NM_024312.4:c.2693del | NP_077288.2:p.Lys898SerfsTer13 | |
| XM_006719593.2:c.2693del | XP_006719656.1:p.Lys898SerfsTer13 | |
| XM_011538731.1:c.2612del | XP_011537033.1:p.Lys871SerfsTer13 | |
| XM_006719593.3:c.2693del | XP_006719656.1:p.Lys898SerfsTer13 | |
| XM_011538731.2:c.2612del | XP_011537033.1:p.Lys871SerfsTer13 | |
| XM_017019961.1:c.2477del | XP_016875450.1:p.Lys826SerfsTer13 | |
| XM_017019962.2:c.1466del | XP_016875451.1:p.Lys489SerfsTer13 | |
| NM_024312.5:c.2693del MANE Select | NP_077288.2:p.Lys898SerfsTer13 |