Linked Data
dbSNP Id:
rs1561093289
gnomAD v2:
5-14871635-ACG-A
gnomAD v3:
5-14871526-ACG-A
gnomAD v4:
5-14871526-ACG-A
MyVariant Identifiers:
chr5:g.14871636_14871641delinsGGGC (hg19)
chr5:g.14871527_14871532delinsGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871527_14871528del , CM000667.2:g.14871527_14871528del | GRCh38 |
| NC_000005.9:g.14871636_14871637del , CM000667.1:g.14871636_14871637del | GRCh37 |
| NC_000005.8:g.14924636_14924637del | NCBI36 |
| NG_008273.1:g.5251_5252del | |
| NG_008273.2:g.5258_5259del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-81_-80del MANE Select | ENSP00000284268.6:n.-81_-80del | |
| ENST00000284268.6:c.-81_-80del | ENSP00000284268.6:n.-81_-80del | |
| ENST00000505140.1:c.-81_-80del | ENSP00000426332.1:n.-81_-80del | |
| NM_054027.4:c.-81_-80del | NP_473368.1:n.-81_-80del | |
| XM_011514067.1:c.-81_-80del | XP_011512369.1:n.-81_-80del | |
| NM_054027.5:c.-81_-80del | NP_473368.1:n.-81_-80del | |
| NM_054027.6:c.-81_-80del MANE Select | NP_473368.1:n.-81_-80del |