MyVariant.info:
GRCh38
chr20:g.44401267_44401270del
GRCh38
chr20:g.44401263_44401266del
GRCh37
chr20:g.43029907_43029910del
GRCh37
chr20:g.43029903_43029906del
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000362 (NFE)
Exomes Max Group AF
0.00000312 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44401267_44401270del , CM000682.2:g.44401267_44401270del | GRCh38 |
| NC_000020.10:g.43029907_43029910del , CM000682.1:g.43029907_43029910del | GRCh37 |
| NC_000020.9:g.42463321_42463324del | NCBI36 |
| NG_009818.1:g.50467_50470del , LRG_483:g.50467_50470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.50-4791_50-4788del MANE Select | ENSP00000315180.4:n.50-4791_50-4788del | |
| ENST00000316099.10:c.-106_-103del | ENSP00000312987.3:n.-106_-103del | |
| ENST00000316099.9:c.-106_-103del | ENSP00000312987.3:n.-106_-103del | |
| ENST00000316673.8:c.50-4791_50-4788del | ENSP00000315180.4:n.50-4791_50-4788del | |
| ENST00000457232.5:c.50-4791_50-4788del | ENSP00000396216.1:n.50-4791_50-4788del | |
| ENST00000609262.5:c.41-4791_41-4788del | ENSP00000476310.1:n.41-4791_41-4788del | |
| ENST00000609795.5:c.50-4791_50-4788del | ENSP00000476609.1:n.50-4791_50-4788del | |
| ENST00000619550.4:c.41-4791_41-4788del | ENSP00000481331.1:n.41-4791_41-4788del | |
| NM_000457.4:c.-106_-103del , LRG_483t2:c.-106_-103del | NP_000448.3:n.-106_-103del | |
| NM_001030003.2:c.50-4791_50-4788del | NP_001025174.1:n.50-4791_50-4788del | |
| NM_001030004.2:c.50-4791_50-4788del | NP_001025175.1:n.50-4791_50-4788del | |
| NM_001258355.1:c.-218_-215del | NP_001245284.1:n.-218_-215del | |
| NM_001287182.1:c.41-4791_41-4788del | NP_001274111.1:n.41-4791_41-4788del | |
| NM_001287183.1:c.41-4791_41-4788del , LRG_483t3:c.41-4791_41-4788del | NP_001274112.1:n.41-4791_41-4788del | |
| NM_001287184.1:c.41-4791_41-4788del | NP_001274113.1:n.41-4791_41-4788del | |
| NM_175914.4:c.50-4791_50-4788del , LRG_483t1:c.50-4791_50-4788del | NP_787110.2:n.50-4791_50-4788del | |
| NM_178849.2:c.-106_-103del | NP_849180.1:n.-106_-103del | |
| NM_178850.2:c.-106_-103del | NP_849181.1:n.-106_-103del | |
| XM_005260407.4:c.-106_-103del | XP_005260464.1:n.-106_-103del | |
| NM_001030003.3:c.50-4791_50-4788del | NP_001025174.1:n.50-4791_50-4788del | |
| NM_001030004.3:c.50-4791_50-4788del | NP_001025175.1:n.50-4791_50-4788del | |
| NM_001258355.2:c.-218_-215del | NP_001245284.1:n.-218_-215del | |
| NM_001287182.2:c.41-4791_41-4788del | NP_001274111.1:n.41-4791_41-4788del | |
| NM_001287184.2:c.41-4791_41-4788del | NP_001274113.1:n.41-4791_41-4788del | |
| NM_178849.3:c.-106_-103del | NP_849180.1:n.-106_-103del | |
| NM_178850.3:c.-106_-103del | NP_849181.1:n.-106_-103del | |
| NM_000457.5:c.-106_-103del | NP_000448.3:n.-106_-103del | |
| NM_000457.6:c.-106_-103del | NP_000448.3:n.-106_-103del | |
| NM_001287183.2:c.41-4791_41-4788del | NP_001274112.1:n.41-4791_41-4788del | |
| NM_175914.5:c.50-4791_50-4788del MANE Select | NP_787110.2:n.50-4791_50-4788del |