Linked Data
gnomAD v4:
1-152304503-C-CCAATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304504_152304505insAATGC , CM000663.2:g.152304504_152304505insAATGC | GRCh38 |
| NC_000001.10:g.152276980_152276981insAATGC , CM000663.1:g.152276980_152276981insAATGC | GRCh37 |
| NC_000001.9:g.150543604_150543605insAATGC | NCBI36 |
| NG_016190.1:g.25700_25701insCATTG , LRG_1028:g.25700_25701insCATTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10382_10383insCATTG MANE Select | ENSP00000357789.1:p.Ser3462IlefsTer? | |
| ENST00000368799.1:c.10382_10383insCATTG | ENSP00000357789.1:p.Ser3462IlefsTer? | |
| NM_002016.1:c.10382_10383insCATTG , LRG_1028t1:c.10382_10383insCATTG | NP_002007.1:p.Ser3462IlefsTer? | |
| XM_011509329.1:c.9109-671_9109-670insCATTG | XP_011507631.1:n.9109-671_9109-670insCATTG | |
| NM_002016.2:c.10382_10383insCATTG MANE Select | NP_002007.1:p.Ser3462IlefsTer? |