Linked Data
dbSNP Id:
rs1347627582
gnomAD v2:
7-65554341-CCTGGCTAGTACGTGCCAGTTCTCAGGGCT-C
gnomAD v4:
7-66089354-CCTGGCTAGTACGTGCCAGTTCTCAGGGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089360_66089388del , CM000669.2:g.66089360_66089388del | GRCh38 |
| NC_000007.13:g.65554347_65554375del , CM000669.1:g.65554347_65554375del | GRCh37 |
| NC_000007.12:g.65191782_65191810del | NCBI36 |
| NG_009288.1:g.18572_18600del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.978+25_978+53del MANE Select | ENSP00000307188.9:n.978+25_978+53del | |
| ENST00000362000.10:c.783+25_783+53del | ENSP00000354710.6:n.783+25_783+53del | |
| ENST00000380839.9:c.900+25_900+53del | ENSP00000370219.4:n.900+25_900+53del | |
| ENST00000395331.4:c.918+185_918+213del | ENSP00000378740.3:n.918+185_918+213del | |
| ENST00000395332.8:c.978+25_978+53del | ENSP00000378741.3:n.978+25_978+53del | |
| ENST00000488343.2:c.147+25_147+53del | ENSP00000500864.1:n.147+25_147+53del | |
| ENST00000671817.1:c.900+25_900+53del | ENSP00000500462.1:n.900+25_900+53del | |
| ENST00000672498.1:c.*277+25_*277+53del | ENSP00000500227.1:n.*277+25_*277+53del | |
| ENST00000672586.1:n.1737+25_1737+53del | ||
| ENST00000672676.1:n.2002+25_2002+53del | ||
| ENST00000673149.1:n.790+25_790+53del | ||
| ENST00000673350.1:n.3095+25_3095+53del | ||
| ENST00000673518.1:c.900+25_900+53del | ENSP00000499889.1:n.900+25_900+53del | |
| ENST00000304874.13:c.978+25_978+53del | ENSP00000307188.9:n.978+25_978+53del | |
| ENST00000380839.8:c.900+25_900+53del | ENSP00000370219.4:n.900+25_900+53del | |
| ENST00000395331.3:c.918+185_918+213del | ENSP00000378740.3:n.918+185_918+213del | |
| ENST00000395332.7:c.978+25_978+53del | ENSP00000378741.3:n.978+25_978+53del | |
| ENST00000450043.2:c.291+25_291+53del | ENSP00000396527.2:n.291+25_291+53del | |
| ENST00000464970.1:n.97+25_97+53del | ||
| ENST00000488343.1:n.147+25_147+53del | ||
| ENST00000493708.5:n.459+25_459+53del | ||
| NM_000048.3:c.978+25_978+53del | NP_000039.2:n.978+25_978+53del | |
| NM_001024943.1:c.978+25_978+53del | NP_001020114.1:n.978+25_978+53del | |
| NM_001024944.1:c.918+185_918+213del | NP_001020115.1:n.918+185_918+213del | |
| NM_001024946.1:c.900+25_900+53del | NP_001020117.1:n.900+25_900+53del | |
| NM_000048.4:c.978+25_978+53del MANE Select | NP_000039.2:n.978+25_978+53del | |
| NM_001024943.2:c.978+25_978+53del | NP_001020114.1:n.978+25_978+53del | |
| NM_001024944.2:c.918+185_918+213del | NP_001020115.1:n.918+185_918+213del | |
| NM_001024946.2:c.900+25_900+53del | NP_001020117.1:n.900+25_900+53del |