Linked Data
dbSNP Id:
rs766219666
ExAC:
9:34648303 GTTC / G
gnomAD v2:
9-34648303-GTTC-G
gnomAD v4:
9-34648306-GTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648311_34648313del , CM000671.2:g.34648311_34648313del | GRCh38 |
| NC_000009.11:g.34648308_34648310del , CM000671.1:g.34648308_34648310del | GRCh37 |
| NC_000009.10:g.34638308_34638310del | NCBI36 |
| NG_009029.1:g.6674_6676del | |
| NG_028966.1:g.1127_1129del | |
| NG_009029.2:g.6723_6725del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*153-23_*153-21del | ENSP00000509954.1:n.*153-23_*153-21del | |
| ENST00000378842.8:c.565-23_565-21del MANE Select | ENSP00000368119.4:n.565-23_565-21del | |
| ENST00000378842.7:c.565-23_565-21del | ENSP00000368119.3:n.565-23_565-21del | |
| ENST00000450095.6:c.238-23_238-21del | ENSP00000401956.2:n.238-23_238-21del | |
| ENST00000472111.5:n.821-23_821-21del | ||
| ENST00000473506.6:c.*153-23_*153-21del | ENSP00000432839.2:n.*153-23_*153-21del | |
| ENST00000473529.5:n.724-23_724-21del | ||
| ENST00000485531.1:n.1159-23_1159-21del | ||
| ENST00000487381.5:n.950-23_950-21del | ||
| ENST00000489643.6:n.340-23_340-21del | ||
| ENST00000554085.5:c.*309-23_*309-21del | ENSP00000450419.1:n.*309-23_*309-21del | |
| ENST00000554139.5:n.811-23_811-21del | ||
| ENST00000554550.5:c.*185-23_*185-21del | ENSP00000451435.1:n.*185-23_*185-21del | |
| ENST00000554638.5:n.1037-23_1037-21del | ||
| ENST00000554897.5:c.*252-23_*252-21del | ENSP00000450942.1:n.*252-23_*252-21del | |
| ENST00000554944.5:n.914-23_914-21del | ||
| ENST00000555020.5:n.721-23_721-21del | ||
| ENST00000555086.5:n.569-23_569-21del | ||
| ENST00000555214.5:n.386-23_386-21del | ||
| ENST00000556244.1:c.552-23_552-21del | ||
| ENST00000556278.1:c.310-23_310-21del | ENSP00000451792.1:n.310-23_310-21del | |
| ENST00000556494.5:n.686-23_686-21del | ||
| ENST00000557706.5:n.1127-23_1127-21del | ||
| NM_000155.3:c.565-23_565-21del | NP_000146.2:n.565-23_565-21del | |
| NM_001258332.1:c.238-23_238-21del | NP_001245261.1:n.238-23_238-21del | |
| NM_000155.4:c.565-23_565-21del MANE Select | NP_000146.2:n.565-23_565-21del | |
| NM_001258332.2:c.238-23_238-21del | NP_001245261.1:n.238-23_238-21del |