Linked Data
ClinVar Variation Id:
2734069
dbSNP Id:
rs753950998
ExAC:
1:204131146 T / TGTA
gnomAD v2:
1-204131146-T-TGTA
gnomAD v3:
1-204162018-T-TGTA
gnomAD v4:
1-204162018-T-TGTA
MyVariant Identifiers:
chr1:g.204131146_204131147insGTA (hg19)
chr1:g.204162018_204162019insGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204162021_204162023dup , CM000663.2:g.204162021_204162023dup | GRCh38 |
| NC_000001.10:g.204131149_204131151dup , CM000663.1:g.204131149_204131151dup | GRCh37 |
| NC_000001.9:g.202397772_202397774dup | NCBI36 |
| NG_012122.1:g.9317_9319dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.241_243dup MANE Select | ENSP00000272190.8:p.Tyr81_Met82insTyr | |
| ENST00000638118.1:c.127_129dup | ENSP00000490307.1:p.Tyr43_Met44insTyr | |
| ENST00000272190.8:c.241_243dup | ENSP00000272190.8:p.Tyr81_Met82insTyr | |
| NM_000537.3:c.241_243dup | NP_000528.1:p.Tyr81_Met82insTyr | |
| NM_000537.4:c.241_243dup MANE Select | NP_000528.1:p.Tyr81_Met82insTyr |