Linked Data
dbSNP Id:
rs730882239
gnomAD v2:
1-227174238-A-ATACG
gnomAD v3:
1-226986537-A-ATACG
gnomAD v4:
1-226986537-A-ATACG
MyVariant Identifiers:
chr1:g.227174238_227174239insTACG (hg19)
chr1:g.226986537_226986538insTACG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226986537_226986538insTACG , CM000663.2:g.226986537_226986538insTACG | GRCh38 |
| NC_000001.10:g.227174238_227174239insTACG , CM000663.1:g.227174238_227174239insTACG | GRCh37 |
| NC_000001.9:g.225240861_225240862insTACG | NCBI36 |
| NG_012825.1:g.51301_51302insTACG | |
| NG_012825.2:g.94002_94003insTACG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366777.4:c.1744_1745insTACG MANE Select | ENSP00000355739.3:p.Ser582IlefsTer? | |
| ENST00000366779.6:c.*6471_*6472insTACG | ENSP00000355741.2:n.*6471_*6472insTACG | |
| ENST00000366777.3:c.1744_1745insTACG | ENSP00000355739.3:p.Ser582IlefsTer? | |
| ENST00000366778.5:c.1588_1589insTACG | ENSP00000355740.1:p.Ser530IlefsTer? | |
| ENST00000366779.5:c.1744_1745insTACG | ENSP00000355741.1:p.Ser582IlefsTer? | |
| ENST00000478406.5:n.2606_2607insTACG | ||
| ENST00000479852.1:n.931_932insTACG | ||
| ENST00000485462.5:n.1134_1135insTACG | ||
| NM_020247.4:c.1744_1745insTACG | NP_064632.2:p.Ser582IlefsTer? | |
| XM_005273201.1:c.1744_1745insTACG | XP_005273258.1:p.Ser582IlefsTer? | |
| XM_011544238.1:c.1744_1745insTACG | XP_011542540.1:p.Ser582IlefsTer? | |
| XM_011544239.1:c.1744_1745insTACG | XP_011542541.1:p.Ser582IlefsTer? | |
| XM_011544240.1:c.1744_1745insTACG | XP_011542542.1:p.Ser582IlefsTer? | |
| XM_011544241.1:c.1744_1745insTACG | XP_011542543.1:p.Ser582IlefsTer? | |
| XM_011544239.2:c.1744_1745insTACG | XP_011542541.1:p.Ser582IlefsTer? | |
| XM_011544241.2:c.1744_1745insTACG | XP_011542543.1:p.Ser582IlefsTer? | |
| XM_017001852.1:c.1744_1745insTACG | XP_016857341.1:p.Ser582IlefsTer? | |
| XM_024448517.1:c.1744_1745insTACG | XP_024304285.1:p.Ser582IlefsTer? | |
| XM_024448518.1:c.1744_1745insTACG | XP_024304286.1:p.Ser582IlefsTer? | |
| NM_020247.5:c.1744_1745insTACG MANE Select | NP_064632.2:p.Ser582IlefsTer? |