Linked Data
dbSNP Id:
rs1568462232
gnomAD v2:
19-49206777-CGGGAGCCGGCCG-C
gnomAD v3:
19-48703520-CGGGAGCCGGCCG-C
gnomAD v4:
19-48703520-CGGGAGCCGGCCG-C
MyVariant Identifiers:
chr19:g.49206778_49206789del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703523_48703534del , CM000681.2:g.48703523_48703534del | GRCh38 |
| NC_000019.9:g.49206780_49206791del , CM000681.1:g.49206780_49206791del | GRCh37 |
| NC_000019.8:g.53898592_53898603del | NCBI36 |
| NG_007511.1:g.12553_12564del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.567_578del MANE Select | ENSP00000387498.2:p.Ser190_Gly193del | |
| ENST00000522966.2:c.567_578del | ENSP00000430227.2:p.Ser190_Gly193del | |
| ENST00000391876.5:c.567_578del | ENSP00000375748.4:p.Ser190_Gly193del | |
| ENST00000425340.2:c.567_578del | ENSP00000387498.2:p.Ser190_Gly193del | |
| ENST00000522966.1:c.567_578del | ENSP00000430227.1:p.Ser190_Gly193del | |
| NM_000511.5:c.567_578del | NP_000502.4:p.Ser190_Gly193del | |
| NM_001097638.2:c.567_578del | NP_001091107.1:p.Ser190_Gly193del | |
| NR_131188.1:n.317_328del | ||
| NM_000511.6:c.567_578del MANE Select | NP_000502.4:p.Ser190_Gly193del | |
| NM_001097638.3:c.567_578del | NP_001091107.1:p.Ser190_Gly193del |