Linked Data
dbSNP Id:
rs1567192258
gnomAD v2:
15-89872140-ACTATG-A
gnomAD v4:
15-89328909-ACTATG-A
MyVariant Identifiers:
chr15:g.89872141_89872145del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328912_89328916del , CM000677.2:g.89328912_89328916del | GRCh38 |
| NC_000015.9:g.89872143_89872147del , CM000677.1:g.89872143_89872147del | GRCh37 |
| NC_000015.8:g.87673147_87673151del | NCBI36 |
| NG_008218.1:g.10882_10886del | |
| NG_008218.2:g.10882_10886del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1023+29_1023+33del | ENSP00000516154.1:n.1023+29_1023+33del | |
| ENST00000268124.11:c.1023+29_1023+33del MANE Select | ENSP00000268124.5:n.1023+29_1023+33del | |
| ENST00000530292.3:c.624+29_624+33del | ENSP00000432885.2:n.624+29_624+33del | |
| ENST00000635986.2:c.1023+29_1023+33del | ENSP00000490653.2:n.1023+29_1023+33del | |
| ENST00000636774.1:c.1023+29_1023+33del | ENSP00000489799.1:n.1023+29_1023+33del | |
| ENST00000637264.1:c.95+29_95+33del | ||
| ENST00000666746.1:c.680+29_680+33del | ||
| ENST00000672071.1:n.1221+29_1221+33del | ||
| ENST00000672923.2:n.20+29_20+33del | ||
| ENST00000268124.9:c.1023+29_1023+33del | ENSP00000268124.5:n.1023+29_1023+33del | |
| ENST00000442287.6:c.1023+29_1023+33del | ENSP00000399851.2:n.1023+29_1023+33del | |
| ENST00000631044.2:c.*406+29_*406+33del | ENSP00000486730.1:n.*406+29_*406+33del | |
| NM_001126131.1:c.1023+29_1023+33del | NP_001119603.1:n.1023+29_1023+33del | |
| NM_002693.2:c.1023+29_1023+33del | NP_002684.1:n.1023+29_1023+33del | |
| NM_001126131.2:c.1023+29_1023+33del | NP_001119603.1:n.1023+29_1023+33del | |
| NM_002693.3:c.1023+29_1023+33del MANE Select | NP_002684.1:n.1023+29_1023+33del |