Linked Data
dbSNP Id:
rs2037926834
gnomAD v3:
18-46579704-CA-C
gnomAD v4:
18-46579704-CA-C
MyVariant Identifiers:
chr18:g.44159668del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46579709del , CM000680.2:g.46579709del | GRCh38 |
| NC_000018.9:g.44159672del , CM000680.1:g.44159672del | GRCh37 |
| NC_000018.8:g.42413670del | NCBI36 |
| NG_016646.1:g.82329del | |
| NG_016646.2:g.82329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.1734del MANE Select | ENSP00000496347.1:p.Phe578LeufsTer? | |
| ENST00000335730.6:n.1047del | ||
| ENST00000441551.6:c.1734del | ENSP00000387621.2:p.Phe578LeufsTer? | |
| ENST00000536736.5:c.1734del | ENSP00000444586.1:p.Phe578LeufsTer? | |
| NM_144612.6:c.1734del | NP_653213.6:p.Phe578LeufsTer? | |
| XM_011525803.1:c.1734del | XP_011524105.1:p.Phe578LeufsTer? | |
| XM_011525804.1:c.-30-1838del | XP_011524106.1:n.-30-1838del | |
| XM_011525804.2:c.-30-1838del | XP_011524106.1:n.-30-1838del | |
| XM_017025548.1:c.1734del | XP_016881037.1:p.Phe578LeufsTer? | |
| XM_024451084.1:c.216del | XP_024306852.1:p.Phe72LeufsTer? | |
| NM_001384474.1:c.1734del MANE Select | NP_001371403.1:p.Phe578LeufsTer? | |
| NM_144612.7:c.1734del | NP_653213.6:p.Phe578LeufsTer? |