Linked Data
dbSNP Id:
rs1273086362
gnomAD v2:
10-88635742-GGTGACA-G
gnomAD v4:
10-86875985-GGTGACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86875988_86875993del , CM000672.2:g.86875988_86875993del | GRCh38 |
| NC_000010.10:g.88635745_88635750del , CM000672.1:g.88635745_88635750del | GRCh37 |
| NC_000010.9:g.88625725_88625730del | NCBI36 |
| NG_009362.1:g.124350_124355del , LRG_298:g.124350_124355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.-31_-26del | ENSP00000483569.2:n.-31_-26del | |
| ENST00000635816.2:c.-31_-26del | ENSP00000489707.1:n.-31_-26del | |
| ENST00000636056.2:c.-31_-26del | ENSP00000490273.1:n.-31_-26del | |
| ENST00000372037.8:c.-31_-26del MANE Select | ENSP00000361107.2:n.-31_-26del | |
| ENST00000635816.1:c.-31_-26del | ENSP00000489707.1:n.-31_-26del | |
| ENST00000636056.1:c.-31_-26del | ENSP00000490273.1:n.-31_-26del | |
| ENST00000638429.1:c.-31_-26del | ENSP00000492290.1:n.-31_-26del | |
| ENST00000372037.7:c.-31_-26del | ENSP00000361107.1:n.-31_-26del | |
| ENST00000480152.2:c.-31_-26del | ENSP00000483569.1:n.-31_-26del | |
| NM_004329.2:c.-31_-26del , LRG_298t1:c.-31_-26del | NP_004320.2:n.-31_-26del | |
| XM_011540103.1:c.-31_-26del | XP_011538405.1:n.-31_-26del | |
| XM_011540104.1:c.-31_-26del | XP_011538406.1:n.-31_-26del | |
| XM_011540103.2:c.-31_-26del | XP_011538405.1:n.-31_-26del | |
| XM_011540104.2:c.-31_-26del | XP_011538406.1:n.-31_-26del | |
| NM_004329.3:c.-31_-26del MANE Select | NP_004320.2:n.-31_-26del |