Linked Data
gnomAD v4:
19-15180084-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180090dup , CM000681.2:g.15180090dup | GRCh38 |
| NC_000019.9:g.15290901dup , CM000681.1:g.15290901dup | GRCh37 |
| NC_000019.8:g.15151901dup | NCBI36 |
| NG_009819.1:g.25897dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3314dup MANE Select | ENSP00000263388.1:p.Tyr1106LeufsTer4 | |
| ENST00000263388.6:c.3314dup | ENSP00000263388.1:p.Tyr1106LeufsTer4 | |
| ENST00000601011.1:c.3155dup | ENSP00000473138.1:p.Tyr1053LeufsTer4 | |
| NM_000435.2:c.3314dup | NP_000426.2:p.Tyr1106LeufsTer4 | |
| XM_005259924.3:c.3158dup | XP_005259981.1:p.Tyr1054LeufsTer4 | |
| XM_005259924.4:c.3158dup | XP_005259981.1:p.Tyr1054LeufsTer4 | |
| NM_000435.3:c.3314dup MANE Select | NP_000426.2:p.Tyr1106LeufsTer4 |