Linked Data
ClinVar Variation Id:
2098453
ClinVar RCV Id:
RCV003030957
gnomAD v4:
2-181558638-TCTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558639_181558642del , CM000664.2:g.181558639_181558642del | GRCh38 |
| NC_000002.11:g.182423366_182423369del , CM000664.1:g.182423366_182423369del | GRCh37 |
| NC_000002.10:g.182131611_182131614del | NCBI36 |
| NG_021178.1:g.103466_103469del | |
| NG_021178.2:g.103466_103469del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.-13_-10del | ENSP00000508396.1:n.-13_-10del | |
| ENST00000410087.8:c.744_747del MANE Select | ENSP00000386725.3:p.Lys249MetfsTer10 | |
| ENST00000339098.9:c.822_825del | ENSP00000341159.5:p.Lys275MetfsTer10 | |
| ENST00000374967.6:c.680_683del | ENSP00000364106.2:n.680_683del | |
| ENST00000374969.6:c.482-8934_482-8931del | ENSP00000364108.2:n.482-8934_482-8931del | |
| ENST00000374970.6:c.614-8934_614-8931del | ENSP00000364109.2:n.614-8934_614-8931del | |
| ENST00000409440.7:c.690_693del | ENSP00000387080.3:p.Lys231MetfsTer10 | |
| ENST00000410087.7:c.744_747del | ENSP00000386725.3:p.Lys249MetfsTer10 | |
| ENST00000421817.5:c.*26_*29del | ENSP00000411466.1:n.*26_*29del | |
| ENST00000452174.5:c.548_551del | ENSP00000409198.1:n.548_551del | |
| ENST00000479558.5:n.742_745del | ||
| ENST00000494398.5:n.744_747del | ||
| NM_001030311.2:c.822_825del | NP_001025482.1:p.Lys275MetfsTer10 | |
| NM_001030312.2:c.482-8934_482-8931del | NP_001025483.1:n.482-8934_482-8931del | |
| NM_001030313.2:c.614-8934_614-8931del | NP_001025484.1:n.614-8934_614-8931del | |
| NM_001160277.1:c.690_693del | NP_001153749.1:p.Lys231MetfsTer10 | |
| NM_201548.4:c.744_747del | NP_963842.1:p.Lys249MetfsTer10 | |
| NR_027689.1:n.649_652del | ||
| NR_027690.1:n.781_784del | ||
| NM_201548.5:c.744_747del MANE Select | NP_963842.1:p.Lys249MetfsTer10 | |
| NM_001030311.3:c.822_825del | NP_001025482.1:p.Lys275MetfsTer10 | |
| NM_001030312.3:c.482-8934_482-8931del | NP_001025483.1:n.482-8934_482-8931del | |
| NM_001030313.3:c.614-8934_614-8931del | NP_001025484.1:n.614-8934_614-8931del | |
| NM_001160277.2:c.690_693del | NP_001153749.1:p.Lys231MetfsTer10 | |
| NR_027689.2:n.647_650del | ||
| NR_027690.2:n.779_782del |