Linked Data
gnomAD v4:
9-38396346-C-CCCGTTGGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396346_38396347insCCGTTGGTG , CM000671.2:g.38396346_38396347insCCGTTGGTG | GRCh38 |
| NC_000009.11:g.38396343_38396344insCCGTTGGTG , CM000671.1:g.38396343_38396344insCCGTTGGTG | GRCh37 |
| NC_000009.10:g.38386343_38386344insCCGTTGGTG | NCBI36 |
| NG_012253.1:g.8642_8643insCCGTTGGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.598_599insCCGTTGGTG MANE Select | ENSP00000366927.3:p.Leu200delinsProValGlyVal | |
| ENST00000377698.3:c.598_599insCCGTTGGTG | ENSP00000366927.3:p.Leu200delinsProValGlyVal | |
| NM_000692.4:c.598_599insCCGTTGGTG | NP_000683.3:p.Leu200delinsProValGlyVal | |
| XM_011517802.1:c.598_599insCCGTTGGTG | XP_011516104.1:p.Leu200delinsProValGlyVal | |
| XM_011517802.2:c.598_599insCCGTTGGTG | XP_011516104.1:p.Leu200delinsProValGlyVal | |
| NM_000692.5:c.598_599insCCGTTGGTG MANE Select | NP_000683.3:p.Leu200delinsProValGlyVal |