Linked Data
dbSNP Id:
rs1176429302
gnomAD v2:
1-20305070-TCCCTCTCTGC-T
gnomAD v3:
1-19978577-TCCCTCTCTGC-T
gnomAD v4:
1-19978577-TCCCTCTCTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19978588_19978597del , CM000663.2:g.19978588_19978597del | GRCh38 |
| NC_000001.10:g.20305081_20305090del , CM000663.1:g.20305081_20305090del | GRCh37 |
| NC_000001.9:g.20177668_20177677del | NCBI36 |
| NG_012928.1:g.6853_6862del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482011.3:c.41-63_41-54del MANE Select | ENSP00000504762.1:n.41-63_41-54del | |
| ENST00000400520.8:c.41-63_41-54del | ENSP00000383364.3:n.41-63_41-54del | |
| ENST00000482011.2:c.41-63_41-54del | ENSP00000504762.1:n.41-63_41-54del | |
| ENST00000649436.1:c.-1-103_-1-94del | ENSP00000496912.1:n.-1-103_-1-94del | |
| ENST00000375111.7:c.41-63_41-54del | ENSP00000364252.3:n.41-63_41-54del | |
| ENST00000400520.7:c.41-63_41-54del | ENSP00000383364.3:n.41-63_41-54del | |
| ENST00000461140.1:n.335-103_335-94del | ||
| ENST00000469162.5:n.207-63_207-54del | ||
| ENST00000482011.1:n.313-63_313-54del | ||
| ENST00000491964.5:n.273-63_273-54del | ||
| ENST00000496748.1:n.328_337del | ||
| NM_000300.3:c.41-63_41-54del | NP_000291.1:n.41-63_41-54del | |
| NM_001161727.1:c.41-63_41-54del | NP_001155199.1:n.41-63_41-54del | |
| NM_001161728.1:c.41-63_41-54del | NP_001155200.1:n.41-63_41-54del | |
| NM_001161729.1:c.41-63_41-54del | NP_001155201.1:n.41-63_41-54del | |
| NM_000300.4:c.41-63_41-54del | NP_000291.1:n.41-63_41-54del | |
| NM_001161727.2:c.41-63_41-54del | NP_001155199.1:n.41-63_41-54del | |
| NM_001161728.2:c.41-63_41-54del | NP_001155200.1:n.41-63_41-54del | |
| NM_001395463.1:c.41-63_41-54del MANE Select | NP_001382392.1:n.41-63_41-54del |