Linked Data
ClinVar Variation Id:
133991
ClinVar RCV Id:
RCV000120660
dbSNP Id:
rs587778239
ExAC:
6:139202098 G / GAAT
gnomAD v2:
6-139202098-G-GAAT
gnomAD v3:
6-138880961-G-GAAT
gnomAD v4:
6-138880961-G-GAAT
MyVariant Identifiers:
chr6:g.139202098_139202099insAAT (hg19)
chr6:g.138880961_138880962insAAT (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138880963_138880965dup , CM000668.2:g.138880963_138880965dup | GRCh38 |
| NC_000006.11:g.139202100_139202102dup , CM000668.1:g.139202100_139202102dup | GRCh37 |
| NC_000006.10:g.139243793_139243795dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541398.7:c.1672_1674dup MANE Select | ENSP00000442307.2:p.Ile558_Leu559insIle | |
| ENST00000367682.6:c.1672_1674dup | ENSP00000356655.2:p.Ile558_Leu559insIle | |
| ENST00000423192.5:c.1672_1674dup | ENSP00000387388.1:p.Ile558_Leu559insIle | |
| ENST00000541398.5:c.1672_1674dup | ENSP00000442307.2:p.Ile558_Leu559insIle | |
| NM_001077706.2:c.1672_1674dup | NP_001071174.1:p.Ile558_Leu559insIle | |
| NM_001195037.2:c.1672_1674dup | NP_001181966.1:p.Ile558_Leu559insIle | |
| XM_006715472.2:c.1798_1800dup | XP_006715535.1:p.Ile600_Leu601insIle | |
| XM_011535795.1:c.1798_1800dup | XP_011534097.1:p.Ile600_Leu601insIle | |
| XM_011535796.1:c.1723_1725dup | XP_011534098.1:p.Ile575_Leu576insIle | |
| XM_011535797.1:c.1591_1593dup | XP_011534099.1:p.Ile531_Leu532insIle | |
| XM_006715472.3:c.1798_1800dup | XP_006715535.1:p.Ile600_Leu601insIle | |
| XM_011535795.2:c.1798_1800dup | XP_011534097.1:p.Ile600_Leu601insIle | |
| XM_011535797.2:c.1591_1593dup | XP_011534099.1:p.Ile531_Leu532insIle | |
| XM_017010828.1:c.1798_1800dup | XP_016866317.1:p.Ile600_Leu601insIle | |
| XM_017010829.1:c.1705_1707dup | XP_016866318.1:p.Ile569_Leu570insIle | |
| NM_001077706.3:c.1672_1674dup MANE Select | NP_001071174.1:p.Ile558_Leu559insIle |