Linked Data
dbSNP Id:
rs1767929016
gnomAD v3:
5-177604483-CTGAGCAGGAA-C
gnomAD v4:
5-177604483-CTGAGCAGGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604484_177604493del , CM000667.2:g.177604484_177604493del | GRCh38 |
| NC_000005.9:g.177031485_177031494del , CM000667.1:g.177031485_177031494del | GRCh37 |
| NC_000005.8:g.176964091_176964100del | NCBI36 |
| NG_015977.1:g.9367_9376del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.356_365del MANE Select | ENSP00000029410.5:p.Leu119ArgfsTer? | |
| ENST00000029410.9:c.356_365del | ENSP00000029410.5:p.Leu119ArgfsTer? | |
| ENST00000502420.1:n.335_344del | ||
| ENST00000505433.5:c.356_365del | ENSP00000425591.1:p.Leu119ArgfsTer? | |
| ENST00000505468.1:c.14_23del | ENSP00000420886.1:p.Leu5ArgfsTer? | |
| ENST00000507061.1:c.173_182del | ENSP00000423868.1:p.Leu58ArgfsTer? | |
| ENST00000510761.1:c.14_23del | ENSP00000423438.1:p.Leu5ArgfsTer? | |
| NM_007255.2:c.356_365del | NP_009186.1:p.Leu119ArgfsTer? | |
| XM_005265805.2:c.14_23del | XP_005265862.1:p.Leu5ArgfsTer? | |
| XM_006714816.2:c.-144_-135del | XP_006714879.1:n.-144_-135del | |
| XM_011534421.1:c.14_23del | XP_011532723.1:p.Leu5ArgfsTer? | |
| XM_006714816.4:c.-144_-135del | XP_006714879.1:n.-144_-135del | |
| XM_017008999.2:c.14_23del | XP_016864488.1:p.Leu5ArgfsTer? | |
| NM_007255.3:c.356_365del MANE Select | NP_009186.1:p.Leu119ArgfsTer? |