Linked Data
dbSNP Id:
rs1588980445
gnomAD v2:
10-64291376-ATCT-A
gnomAD v3:
10-62531617-ATCT-A
gnomAD v4:
10-62531617-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62531618_62531620del , CM000672.2:g.62531618_62531620del | GRCh38 |
| NC_000010.10:g.64291377_64291379del , CM000672.1:g.64291377_64291379del | GRCh37 |
| NC_000010.9:g.63961383_63961385del | NCBI36 |
| NG_021209.1:g.162462_162464del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.981+71821_981+71823del | ENSP00000502188.1:n.981+71821_981+71823del | |
| ENST00000395251.5:c.-185+11021_-185+11023del | ENSP00000378672.1:n.-185+11021_-185+11023del | |
| ENST00000410046.7:c.981+71821_981+71823del | ENSP00000387091.3:n.981+71821_981+71823del | |
| NM_199451.2:c.981+71821_981+71823del | NP_955523.1:n.981+71821_981+71823del | |
| NM_199452.3:c.-185+11021_-185+11023del | NP_955524.3:n.-185+11021_-185+11023del | |
| XM_017015937.2:c.982-12591_982-12589del | XP_016871426.1:n.982-12591_982-12589del | |
| NM_199451.3:c.981+71821_981+71823del | NP_955523.1:n.981+71821_981+71823del |