Linked Data
dbSNP Id:
rs1396744652
gnomAD v2:
5-127692807-TTA-T
gnomAD v3:
5-128357115-TTA-T
gnomAD v4:
5-128357115-TTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357117_128357118del , CM000667.2:g.128357117_128357118del | GRCh38 |
| NC_000005.9:g.127692809_127692810del , CM000667.1:g.127692809_127692810del | GRCh37 |
| NC_000005.8:g.127720708_127720709del | NCBI36 |
| NG_008750.1:g.185927_185928del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2674+159_2674+160del MANE Select | ENSP00000262464.4:n.2674+159_2674+160del | |
| ENST00000262464.8:c.2674+159_2674+160del | ENSP00000262464.4:n.2674+159_2674+160del | |
| ENST00000508053.5:c.2674+159_2674+160del | ENSP00000424571.1:n.2674+159_2674+160del | |
| ENST00000508989.5:c.2575+159_2575+160del | ENSP00000425596.1:n.2575+159_2575+160del | |
| ENST00000619499.4:c.2671+159_2671+160del | ENSP00000482132.1:n.2671+159_2671+160del | |
| NM_001999.3:c.2674+159_2674+160del | NP_001990.2:n.2674+159_2674+160del | |
| XM_017009228.2:c.2521+159_2521+160del | XP_016864717.1:n.2521+159_2521+160del | |
| NM_001999.4:c.2674+159_2674+160del MANE Select | NP_001990.2:n.2674+159_2674+160del |