Linked Data
dbSNP Id:
rs1162788926
gnomAD v2:
15-80478254-TGTGGG-T
gnomAD v3:
15-80185912-TGTGGG-T
gnomAD v4:
15-80185912-TGTGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80185918_80185922del , CM000677.2:g.80185918_80185922del | GRCh38 |
| NC_000015.9:g.80478260_80478264del , CM000677.1:g.80478260_80478264del | GRCh37 |
| NC_000015.8:g.78265315_78265319del | NCBI36 |
| NG_012833.1:g.37920_37924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1270-212_1270-208del | ||
| ENST00000561421.6:c.1181-212_1181-208del MANE Select | ENSP00000453347.2:n.1181-212_1181-208del | |
| ENST00000646551.1:n.2795-212_2795-208del | ||
| ENST00000261755.9:c.1181-212_1181-208del | ENSP00000261755.5:n.1181-212_1181-208del | |
| ENST00000407106.5:c.1181-212_1181-208del | ENSP00000385080.1:n.1181-212_1181-208del | |
| ENST00000539156.5:c.971-212_971-208del | ENSP00000454271.1:n.971-212_971-208del | |
| ENST00000559217.1:n.398-212_398-208del | ||
| ENST00000561421.5:c.1181-212_1181-208del | ENSP00000453347.1:n.1181-212_1181-208del | |
| NM_000137.2:c.1181-212_1181-208del | NP_000128.1:n.1181-212_1181-208del | |
| XM_024449872.1:c.1181-212_1181-208del | XP_024305640.1:n.1181-212_1181-208del | |
| NM_000137.4:c.1181-212_1181-208del MANE Select | NP_000128.1:n.1181-212_1181-208del | |
| NM_001374377.1:c.1181-212_1181-208del | NP_001361306.1:n.1181-212_1181-208del | |
| NM_001374380.1:c.1181-212_1181-208del | NP_001361309.1:n.1181-212_1181-208del |