Linked Data
dbSNP Id:
rs1322737024
gnomAD v2:
19-38778816-TCTC-T
gnomAD v3:
19-38288176-TCTC-T
gnomAD v4:
19-38288176-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38288182_38288184del , CM000681.2:g.38288182_38288184del | GRCh38 |
| NC_000019.9:g.38778822_38778824del , CM000681.1:g.38778822_38778824del | GRCh37 |
| NC_000019.8:g.43470662_43470664del | NCBI36 |
| NG_013372.1:g.28725_28727del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301244.12:c.337+247_337+249del MANE Select | ENSP00000301244.5:n.337+247_337+249del | |
| ENST00000301244.11:c.337+247_337+249del | ENSP00000301244.5:n.337+247_337+249del | |
| ENST00000454580.7:c.166+247_166+249del | ENSP00000389788.2:n.166+247_166+249del | |
| ENST00000587090.5:c.187+247_187+249del | ENSP00000466407.1:n.187+247_187+249del | |
| ENST00000587516.5:c.278-956_278-954del | ENSP00000465721.1:n.278-956_278-954del | |
| NM_001166103.1:c.166+247_166+249del | NP_001159575.1:n.166+247_166+249del | |
| NM_021102.3:c.337+247_337+249del | NP_066925.1:n.337+247_337+249del | |
| NM_021102.4:c.337+247_337+249del MANE Select | NP_066925.1:n.337+247_337+249del | |
| NM_001166103.2:c.166+247_166+249del | NP_001159575.1:n.166+247_166+249del |