Linked Data
ClinVar Variation Id:
56125
ClinVar RCV Id:
RCV000049534
dbSNP Id:
rs386833607
gnomAD v2:
10-126097352-T-TA
gnomAD v4:
10-124408783-T-TA
MyVariant Identifiers:
chr10:g.126097353dupA (hg19)
chr10:g.126097352_126097353insA (hg19)
chr10:g.124408784dupA (hg38)
chr10:g.124408783_124408784insA (hg38)
PubMed:
PMID:1737786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124408785dup , CM000672.2:g.124408785dup | GRCh38 |
| NC_000010.10:g.126097354dup , CM000672.1:g.126097354dup | GRCh37 |
| NC_000010.9:g.126087344dup | NCBI36 |
| NG_008861.1:g.15167dup , LRG_685:g.15167dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368845.6:c.381dup MANE Select | ENSP00000357838.5:p.Thr128TyrfsTer2 | |
| ENST00000368845.5:c.381dup | ENSP00000357838.5:p.Thr128TyrfsTer2 | |
| ENST00000467675.5:n.8dup | ||
| ENST00000476917.5:n.446dup | ||
| ENST00000539214.5:c.-34dup | ENSP00000439042.1:n.-34dup | |
| NM_000274.3:c.381dup , LRG_685t1:c.381dup | NP_000265.1:p.Thr128TyrfsTer2 | |
| NM_001171814.1:c.-34dup | NP_001165285.1:n.-34dup | |
| XM_006717871.2:c.381dup | XP_006717934.1:p.Thr128TyrfsTer2 | |
| XM_011539833.1:c.381dup | XP_011538135.1:p.Thr128TyrfsTer2 | |
| XM_011539834.1:c.381dup | XP_011538136.1:p.Thr128TyrfsTer2 | |
| NM_001322965.1:c.381dup | NP_001309894.1:p.Thr128TyrfsTer2 | |
| NM_001322966.1:c.381dup | NP_001309895.1:p.Thr128TyrfsTer2 | |
| NM_001322967.1:c.381dup | NP_001309896.1:p.Thr128TyrfsTer2 | |
| NM_001322968.1:c.381dup | NP_001309897.1:p.Thr128TyrfsTer2 | |
| NM_001322969.1:c.381dup | NP_001309898.1:p.Thr128TyrfsTer2 | |
| NM_001322970.1:c.381dup | NP_001309899.1:p.Thr128TyrfsTer2 | |
| NM_001322971.1:c.199+3189dup | NP_001309900.1:n.199+3189dup | |
| NM_001322974.1:c.-334dup | NP_001309903.1:n.-334dup | |
| XM_017016279.1:c.-2073dup | XP_016871768.1:n.-2073dup | |
| NM_000274.4:c.381dup MANE Select | NP_000265.1:p.Thr128TyrfsTer2 | |
| NM_001322965.2:c.381dup | NP_001309894.1:p.Thr128TyrfsTer2 | |
| NM_001322966.2:c.381dup | NP_001309895.1:p.Thr128TyrfsTer2 | |
| NM_001322967.2:c.381dup | NP_001309896.1:p.Thr128TyrfsTer2 | |
| NM_001322968.2:c.381dup | NP_001309897.1:p.Thr128TyrfsTer2 | |
| NM_001322969.2:c.381dup | NP_001309898.1:p.Thr128TyrfsTer2 | |
| NM_001322970.2:c.381dup | NP_001309899.1:p.Thr128TyrfsTer2 | |
| NM_001322971.2:c.199+3189dup | NP_001309900.1:n.199+3189dup | |
| NM_001322974.2:c.-334dup | NP_001309903.1:n.-334dup | |
| NM_001171814.2:c.-34dup | NP_001165285.1:n.-34dup |