gnomAD v3:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107110_35107113del , CM000679.2:g.35107110_35107113del | GRCh38 |
| NC_000017.10:g.33434129_33434132del , CM000679.1:g.33434129_33434132del | GRCh37 |
| NC_000017.9:g.30458242_30458245del | NCBI36 |
| NG_031858.1:g.17759_17762del , LRG_516:g.17759_17762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.345+255_345+258del | ENSP00000468273.3:n.345+255_345+258del | |
| ENST00000587405.6:c.-1_3del | ||
| ENST00000590016.6:c.417_420del | ENSP00000466399.1:p.Cys139TrpfsTer16 | |
| ENST00000590631.2:n.437-630_437-627del | ||
| ENST00000592577.6:c.-1_3del | ||
| ENST00000345365.11:c.357_360del MANE Select | ENSP00000338790.6:p.Cys119TrpfsTer16 | |
| ENST00000335858.11:c.145-630_145-627del | ENSP00000338408.6:n.145-630_145-627del | |
| ENST00000345365.10:c.357_360del | ENSP00000338790.6:p.Cys119TrpfsTer16 | |
| ENST00000394589.8:c.357_360del | ENSP00000378090.4:p.Cys119TrpfsTer16 | |
| ENST00000415064.6:n.507_510del | ||
| ENST00000460118.6:c.-125-50_-125-47del | ENSP00000464356.2:n.-125-50_-125-47del | |
| ENST00000585343.5:c.439_442del | ||
| ENST00000585947.5:n.253_256del | ||
| ENST00000585982.5:n.500+255_500+258del | ||
| ENST00000586044.5:c.*88_*91del | ENSP00000465584.1:n.*88_*91del | |
| ENST00000586186.2:c.248+255_248+258del | ||
| ENST00000586210.5:c.275_278del | ENSP00000465612.1:p.Val92GlyfsTer? | |
| ENST00000587405.5:c.-1_3del | ||
| ENST00000587977.5:c.*97_*100del | ENSP00000466587.1:n.*97_*100del | |
| ENST00000587982.5:n.273+255_273+258del | ||
| ENST00000588372.5:c.-1_3del | ||
| ENST00000588594.5:c.*76+255_*76+258del | ENSP00000465366.1:n.*76+255_*76+258del | |
| ENST00000590016.5:c.417_420del | ENSP00000466399.1:p.Cys139TrpfsTer16 | |
| ENST00000590631.1:c.-51-630_-51-627del | ENSP00000465033.1:n.-51-630_-51-627del | |
| ENST00000591723.5:c.-52+255_-52+258del | ENSP00000467986.1:n.-52+255_-52+258del | |
| ENST00000592181.1:c.-1_3del | ||
| ENST00000592430.5:n.326_329del | ||
| ENST00000592577.5:c.363_366del | ENSP00000466839.1:p.Cys121TrpfsTer16 | |
| ENST00000592850.5:c.346-630_346-627del | ||
| ENST00000592928.2:n.167-630_167-627del | ||
| ENST00000593039.5:c.4-630_4-627del | ENSP00000466834.1:n.4-630_4-627del | |
| NM_001142571.1:c.417_420del | NP_001136043.1:p.Cys139TrpfsTer16 | |
| NM_002878.3:c.357_360del , LRG_516t1:c.357_360del | NP_002869.3:p.Cys119TrpfsTer16 | |
| NM_133629.2:c.145-630_145-627del | NP_598332.1:n.145-630_145-627del | |
| NR_037711.1:n.494_497del | ||
| NR_037712.1:n.482+255_482+258del | ||
| NR_037714.1:n.233-630_233-627del | ||
| NM_001142571.2:c.417_420del | NP_001136043.1:p.Cys139TrpfsTer16 | |
| NM_133629.3:c.145-630_145-627del | NP_598332.1:n.145-630_145-627del | |
| NR_037711.2:n.383_386del | ||
| NR_037712.2:n.371+255_371+258del | ||
| NM_002878.4:c.357_360del MANE Select | NP_002869.3:p.Cys119TrpfsTer16 |