Linked Data
dbSNP Id:
rs763097998
ExAC:
19:45923659 CACGA / C
gnomAD v2:
19-45923659-CACGA-C
gnomAD v4:
19-45420401-CACGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45420404_45420407del , CM000681.2:g.45420404_45420407del | GRCh38 |
| NC_000019.9:g.45923662_45923665del , CM000681.1:g.45923662_45923665del | GRCh37 |
| NC_000019.8:g.50615502_50615505del | NCBI36 |
| NG_015839.2:g.63424_63427del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710953.1:c.321+773_321+776del | ENSP00000518553.1:n.321+773_321+776del | |
| ENST00000300853.8:c.344_347del MANE Select | ENSP00000300853.3:p.Phe115CysfsTer11 | |
| ENST00000013807.9:c.344_347del | ENSP00000013807.4:p.Phe115CysfsTer11 | |
| ENST00000300853.7:c.344_347del | ENSP00000300853.2:p.Phe115CysfsTer11 | |
| ENST00000340192.11:c.344_347del | ENSP00000345203.6:p.Phe115CysfsTer11 | |
| ENST00000423698.6:c.128_131del | ENSP00000394875.2:p.Phe43CysfsTer11 | |
| ENST00000588300.1:n.467_470del | ||
| ENST00000589165.5:c.344_347del | ENSP00000468035.1:p.Phe115CysfsTer11 | |
| ENST00000589214.1:c.344_347del | ENSP00000465524.1:p.Phe115CysfsTer11 | |
| ENST00000589381.5:c.128_131del | ENSP00000468548.1:p.Phe43CysfsTer11 | |
| ENST00000591636.5:c.344_347del | ENSP00000468119.1:p.Phe115CysfsTer11 | |
| ENST00000592023.5:c.344_347del | ENSP00000468158.1:p.Phe115CysfsTer11 | |
| ENST00000592083.5:c.344_347del | ENSP00000467183.1:p.Phe115CysfsTer11 | |
| ENST00000592905.5:n.401_404del | ||
| NM_001166049.1:c.344_347del | NP_001159521.1:p.Phe115CysfsTer11 | |
| NM_001983.3:c.344_347del | NP_001974.1:p.Phe115CysfsTer11 | |
| NM_202001.2:c.344_347del | NP_973730.1:p.Phe115CysfsTer11 | |
| XM_005258634.1:c.344_347del | XP_005258691.1:p.Phe115CysfsTer11 | |
| XM_005258635.2:c.344_347del | XP_005258692.1:p.Phe115CysfsTer11 | |
| XM_005258636.3:c.344_347del | XP_005258693.1:p.Phe115CysfsTer11 | |
| XM_005258637.1:c.344_347del | XP_005258694.1:p.Phe115CysfsTer11 | |
| XM_011526610.1:c.344_347del | XP_011524912.1:p.Phe115CysfsTer11 | |
| XM_005258636.4:c.344_347del | XP_005258693.1:p.Phe115CysfsTer11 | |
| XM_011526610.2:c.344_347del | XP_011524912.1:p.Phe115CysfsTer11 | |
| XM_017026459.1:c.344_347del | XP_016881948.1:p.Phe115CysfsTer11 | |
| XM_017026460.2:c.344_347del | XP_016881949.1:p.Phe115CysfsTer11 | |
| XM_017026461.1:c.344_347del | XP_016881950.1:p.Phe115CysfsTer11 | |
| XM_017026462.1:c.344_347del | XP_016881951.1:p.Phe115CysfsTer11 | |
| XM_017026463.1:c.344_347del | XP_016881952.1:p.Phe115CysfsTer11 | |
| XM_017026464.1:c.344_347del | XP_016881953.1:p.Phe115CysfsTer11 | |
| XM_017026465.1:c.344_347del | XP_016881954.1:p.Phe115CysfsTer11 | |
| XM_017026466.1:c.344_347del | XP_016881955.1:p.Phe115CysfsTer11 | |
| XR_001753631.1:n.421_424del | ||
| XR_001753632.1:n.891_894del | ||
| NM_001166049.2:c.344_347del | NP_001159521.1:p.Phe115CysfsTer11 | |
| NM_001369408.1:c.344_347del | NP_001356337.1:p.Phe115CysfsTer11 | |
| NM_001369409.1:c.344_347del | NP_001356338.1:p.Phe115CysfsTer11 | |
| NM_001369410.1:c.344_347del | NP_001356339.1:p.Phe115CysfsTer11 | |
| NM_001369411.1:c.344_347del | NP_001356340.1:p.Phe115CysfsTer11 | |
| NM_001369412.1:c.344_347del | NP_001356341.1:p.Phe115CysfsTer11 | |
| NM_001369413.1:c.344_347del | NP_001356342.1:p.Phe115CysfsTer11 | |
| NM_001369414.1:c.344_347del | NP_001356343.1:p.Phe115CysfsTer11 | |
| NM_001369415.1:c.344_347del | NP_001356344.1:p.Phe115CysfsTer11 | |
| NM_001369416.1:c.344_347del | NP_001356345.1:p.Phe115CysfsTer11 | |
| NM_001369417.1:c.344_347del | NP_001356346.1:p.Phe115CysfsTer11 | |
| NM_001369418.1:c.344_347del | NP_001356347.1:p.Phe115CysfsTer11 | |
| NM_001369419.1:c.344_347del | NP_001356348.1:p.Phe115CysfsTer11 | |
| NM_001983.4:c.344_347del MANE Select | NP_001974.1:p.Phe115CysfsTer11 | |
| NM_202001.3:c.344_347del | NP_973730.1:p.Phe115CysfsTer11 |