Linked Data
gnomAD v4:
19-9126900-CAATCCCAAGAGAAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126904_9126918del , CM000681.2:g.9126904_9126918del | GRCh38 |
| NC_000019.9:g.9237580_9237594del , CM000681.1:g.9237580_9237594del | GRCh37 |
| NC_000019.8:g.9098580_9098594del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.36_50del MANE Select | ENSP00000302867.2:p.Phe12_Gly16del | |
| NM_001001958.1:c.36_50del MANE Select | NP_001001958.1:p.Phe12_Gly16del |