Linked Data
dbSNP Id:
rs2048506289
gnomAD v3:
17-44372505-TGAGCACCTCCCTG-T
gnomAD v4:
17-44372505-TGAGCACCTCCCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372508_44372520del , CM000679.2:g.44372508_44372520del | GRCh38 |
| NC_000017.10:g.42449876_42449888del , CM000679.1:g.42449876_42449888del | GRCh37 |
| NC_000017.9:g.39805402_39805414del | NCBI36 |
| NG_008331.1:g.21988_22000del , LRG_479:g.21988_22000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3061-95_3061-83del MANE Select | ENSP00000262407.5:n.3061-95_3061-83del | |
| ENST00000648408.1:c.2375-95_2375-83del | ||
| ENST00000262407.5:c.3061-95_3061-83del | ENSP00000262407.5:n.3061-95_3061-83del | |
| ENST00000587295.5:c.254-95_254-83del | ||
| ENST00000588098.1:c.38-95_38-83del | ||
| NM_000419.3:c.3061-95_3061-83del , LRG_479t1:c.3061-95_3061-83del | NP_000410.2:n.3061-95_3061-83del | |
| XM_011524749.1:c.2959-95_2959-83del | XP_011523051.1:n.2959-95_2959-83del | |
| XM_011524750.1:c.2944-95_2944-83del | XP_011523052.1:n.2944-95_2944-83del | |
| NM_000419.4:c.3061-95_3061-83del | NP_000410.2:n.3061-95_3061-83del | |
| NM_000419.5:c.3061-95_3061-83del MANE Select | NP_000410.2:n.3061-95_3061-83del |