Linked Data
dbSNP Id:
rs1957808457
gnomAD v3:
13-27924293-GACGCGCACGGCCTACAC-G
gnomAD v4:
13-27924293-GACGCGCACGGCCTACAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924294_27924310del , CM000675.2:g.27924294_27924310del | GRCh38 |
| NC_000013.10:g.28498431_28498447del , CM000675.1:g.28498431_28498447del | GRCh37 |
| NC_000013.9:g.27396431_27396447del | NCBI36 |
| NG_008183.1:g.9264_9280del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.445_461del MANE Select | ENSP00000370421.4:p.Thr149AlafsTer? | |
| ENST00000381033.4:c.445_461del | ENSP00000370421.4:p.Thr149AlafsTer? | |
| NM_000209.3:c.445_461del | NP_000200.1:p.Thr149AlafsTer? | |
| XR_941579.1:n.2171_2187del | ||
| XR_941580.1:n.1087_1103del | ||
| XR_941580.2:n.1099_1115del | ||
| NM_000209.4:c.445_461del MANE Select | NP_000200.1:p.Thr149AlafsTer? |