Linked Data
dbSNP Id:
rs1182662654
gnomAD v2:
16-56936423-GCA-G
gnomAD v3:
16-56902511-GCA-G
gnomAD v4:
16-56902511-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56902512_56902513del , CM000678.2:g.56902512_56902513del | GRCh38 |
| NC_000016.9:g.56936424_56936425del , CM000678.1:g.56936424_56936425del | GRCh37 |
| NC_000016.8:g.55493925_55493926del | NCBI36 |
| NG_009386.1:g.42306_42307del | |
| NG_009386.2:g.42306_42307del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2856+4_2856+5del MANE Select | ENSP00000456149.2:n.2856+4_2856+5del | |
| ENST00000262502.5:c.2853+4_2853+5del | ENSP00000262502.5:n.2853+4_2853+5del | |
| ENST00000438926.6:c.2883+4_2883+5del | ENSP00000402152.2:n.2883+4_2883+5del | |
| ENST00000563236.5:c.2856+4_2856+5del | ENSP00000456149.1:n.2856+4_2856+5del | |
| ENST00000566786.5:c.2880+4_2880+5del | ENSP00000457552.1:n.2880+4_2880+5del | |
| ENST00000569002.1:n.287+4_287+5del | ||
| NM_000339.2:c.2883+4_2883+5del | NP_000330.2:n.2883+4_2883+5del | |
| NM_001126107.1:c.2880+4_2880+5del | NP_001119579.1:n.2880+4_2880+5del | |
| NM_001126108.1:c.2856+4_2856+5del | NP_001119580.1:n.2856+4_2856+5del | |
| XM_005256119.1:c.2853+4_2853+5del | XP_005256176.1:n.2853+4_2853+5del | |
| XM_005256119.2:c.2853+4_2853+5del | XP_005256176.1:n.2853+4_2853+5del | |
| NM_000339.3:c.2883+4_2883+5del | NP_000330.3:n.2883+4_2883+5del | |
| NM_001126107.2:c.2880+4_2880+5del | NP_001119579.2:n.2880+4_2880+5del | |
| NM_001126108.2:c.2856+4_2856+5del MANE Select | NP_001119580.2:n.2856+4_2856+5del |