Linked Data
dbSNP Id:
rs778629581
ExAC:
3:50380470 AAGG / A
gnomAD v2:
3-50380470-AAGG-A
gnomAD v4:
3-50343039-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50343043_50343045del , CM000665.2:g.50343043_50343045del | GRCh38 |
| NC_000003.11:g.50380474_50380476del , CM000665.1:g.50380474_50380476del | GRCh37 |
| NC_000003.10:g.50355478_50355480del | NCBI36 |
| NG_023270.1:g.2895_2897del | |
| NG_042828.1:g.7705_7707del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.600-24_600-22del MANE Select | ENSP00000231749.3:n.600-24_600-22del | |
| ENST00000231749.7:c.600-24_600-22del | ENSP00000231749.3:n.600-24_600-22del | |
| ENST00000360165.7:c.599+76_599+78del | ENSP00000353289.3:n.599+76_599+78del | |
| ENST00000442887.1:c.471-24_471-22del | ENSP00000393687.1:n.471-24_471-22del | |
| ENST00000443080.5:c.*352-24_*352-22del | ENSP00000415661.1:n.*352-24_*352-22del | |
| ENST00000475688.1:n.127_129del | ||
| NM_001308379.1:c.599+76_599+78del | NP_001295308.1:n.599+76_599+78del | |
| NM_015896.2:c.600-24_600-22del | NP_056980.2:n.600-24_600-22del | |
| NM_015896.3:c.600-24_600-22del | NP_056980.2:n.600-24_600-22del | |
| XM_005265216.2:c.363-24_363-22del | XP_005265273.1:n.363-24_363-22del | |
| XM_005265216.3:c.363-24_363-22del | XP_005265273.1:n.363-24_363-22del | |
| NM_015896.4:c.600-24_600-22del MANE Select | NP_056980.2:n.600-24_600-22del | |
| NM_001308379.2:c.599+76_599+78del | NP_001295308.1:n.599+76_599+78del |