Linked Data
dbSNP Id:
rs765781026
ExAC:
4:74286060 T / TA
gnomAD v2:
4-74286060-T-TA
gnomAD v3:
4-73420343-T-TA
gnomAD v4:
4-73420343-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73420349dup , CM000666.2:g.73420349dup | GRCh38 |
| NC_000004.11:g.74286066dup , CM000666.1:g.74286066dup | GRCh37 |
| NC_000004.10:g.74504930dup | NCBI36 |
| NG_009291.1:g.21095dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.*23+28dup MANE Select | ENSP00000295897.4:n.*23+28dup | |
| ENST00000295897.8:c.*23+28dup | ENSP00000295897.4:n.*23+28dup | |
| ENST00000401494.7:c.*23+28dup | ENSP00000384695.3:n.*23+28dup | |
| ENST00000415165.6:c.*23+28dup | ENSP00000401820.2:n.*23+28dup | |
| ENST00000476441.6:c.*1132+28dup | ENSP00000423727.1:n.*1132+28dup | |
| ENST00000495173.1:n.161+28dup | ||
| ENST00000503124.5:c.*23+28dup | ENSP00000421027.1:n.*23+28dup | |
| ENST00000505649.5:n.1400+28dup | ||
| ENST00000508932.5:n.243+28dup | ||
| ENST00000509063.5:c.1785+710dup | ENSP00000422784.1:n.1785+710dup | |
| ENST00000511370.1:c.1386+28dup | ||
| ENST00000621085.4:c.*23+28dup | ENSP00000483421.1:n.*23+28dup | |
| ENST00000621628.4:c.*23+28dup | ENSP00000480485.1:n.*23+28dup | |
| NM_000477.5:c.*23+28dup | NP_000468.1:n.*23+28dup | |
| NM_000477.6:c.*23+28dup | NP_000468.1:n.*23+28dup | |
| NM_000477.7:c.*23+28dup MANE Select | NP_000468.1:n.*23+28dup |