Linked Data
dbSNP Id:
rs570513526
gnomAD v2:
12-1837024-TAA-T
gnomAD v3:
12-1727858-TAA-T
gnomAD v4:
12-1727858-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1727872_1727873del , CM000674.2:g.1727872_1727873del | GRCh38 |
| NC_000012.11:g.1837038_1837039del , CM000674.1:g.1837038_1837039del | GRCh37 |
| NC_000012.10:g.1707299_1707300del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357103.5:c.-86-26386_-86-26385del MANE Select | ENSP00000349616.4:n.-86-26386_-86-26385del | |
| ENST00000357103.4:c.-86-26386_-86-26385del | ENSP00000349616.4:n.-86-26386_-86-26385del | |
| ENST00000537545.1:n.145-26386_145-26385del | ||
| ENST00000540974.1:n.149-2853_149-2852del | ||
| NM_024551.2:c.-86-26386_-86-26385del | NP_078827.2:n.-86-26386_-86-26385del | |
| XM_005253789.1:c.-86-26386_-86-26385del | XP_005253846.1:n.-86-26386_-86-26385del | |
| XM_006719018.1:c.-87+24890_-87+24891del | XP_006719081.1:n.-87+24890_-87+24891del | |
| XM_011521024.1:c.-87+24890_-87+24891del | XP_011519326.1:n.-87+24890_-87+24891del | |
| XM_011521025.1:c.-86-26386_-86-26385del | XP_011519327.1:n.-86-26386_-86-26385del | |
| XM_005253789.2:c.-86-26386_-86-26385del | XP_005253846.1:n.-86-26386_-86-26385del | |
| XM_006719018.2:c.-87+24890_-87+24891del | XP_006719081.1:n.-87+24890_-87+24891del | |
| XM_011521024.2:c.-87+24890_-87+24891del | XP_011519326.1:n.-87+24890_-87+24891del | |
| NM_024551.3:c.-86-26386_-86-26385del MANE Select | NP_078827.2:n.-86-26386_-86-26385del | |
| NM_001375363.1:c.-86-26386_-86-26385del | NP_001362292.1:n.-86-26386_-86-26385del | |
| NM_001375364.1:c.-248-8207_-248-8206del | NP_001362293.1:n.-248-8207_-248-8206del | |
| NM_001375365.1:c.-86-26386_-86-26385del | NP_001362294.1:n.-86-26386_-86-26385del |