Linked Data
dbSNP Id:
rs1331026969
gnomAD v2:
X-29935473-ATATTT-A
gnomAD v3:
X-29917356-ATATTT-A
gnomAD v4:
X-29917356-ATATTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917361_29917365del , CM000685.2:g.29917361_29917365del | GRCh38 |
| NC_000023.10:g.29935478_29935482del , CM000685.1:g.29935478_29935482del | GRCh37 |
| NC_000023.9:g.29845399_29845403del | NCBI36 |
| NG_008292.1:g.1334798_1334802del | |
| NG_008292.2:g.1334798_1334802del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.779-103_779-99del MANE Select | ENSP00000368278.1:n.779-103_779-99del | |
| ENST00000378993.5:c.779-103_779-99del | ENSP00000368278.1:n.779-103_779-99del | |
| NM_014271.3:c.779-103_779-99del | NP_055086.1:n.779-103_779-99del | |
| XM_005274441.1:c.779-103_779-99del | XP_005274498.1:n.779-103_779-99del | |
| XM_011545445.1:c.779-103_779-99del | XP_011543747.1:n.779-103_779-99del | |
| XM_017029240.1:c.779-103_779-99del | XP_016884729.1:n.779-103_779-99del | |
| XM_017029241.1:c.401-103_401-99del | XP_016884730.1:n.401-103_401-99del | |
| NM_014271.4:c.779-103_779-99del MANE Select | NP_055086.1:n.779-103_779-99del |