Linked Data
dbSNP Id:
rs1289071830
gnomAD v3:
9-34648297-G-GACCT
gnomAD v4:
9-34648297-G-GACCT
MyVariant Identifiers:
chr9:g.34648294_34648295insACCT (hg19)
chr9:g.34648297_34648298insACCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648298_34648301dup , CM000671.2:g.34648298_34648301dup | GRCh38 |
| NC_000009.11:g.34648295_34648298dup , CM000671.1:g.34648295_34648298dup | GRCh37 |
| NC_000009.10:g.34638295_34638298dup | NCBI36 |
| NG_009029.1:g.6661_6664dup | |
| NG_028966.1:g.1114_1117dup | |
| NG_009029.2:g.6710_6713dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*153-36_*153-33dup | ENSP00000509954.1:n.*153-36_*153-33dup | |
| ENST00000378842.8:c.565-36_565-33dup MANE Select | ENSP00000368119.4:n.565-36_565-33dup | |
| ENST00000378842.7:c.565-36_565-33dup | ENSP00000368119.3:n.565-36_565-33dup | |
| ENST00000450095.6:c.238-36_238-33dup | ENSP00000401956.2:n.238-36_238-33dup | |
| ENST00000472111.5:n.821-36_821-33dup | ||
| ENST00000473506.6:c.*153-36_*153-33dup | ENSP00000432839.2:n.*153-36_*153-33dup | |
| ENST00000473529.5:n.724-36_724-33dup | ||
| ENST00000485531.1:n.1159-36_1159-33dup | ||
| ENST00000487381.5:n.950-36_950-33dup | ||
| ENST00000489643.6:n.340-36_340-33dup | ||
| ENST00000554085.5:c.*309-36_*309-33dup | ENSP00000450419.1:n.*309-36_*309-33dup | |
| ENST00000554139.5:n.811-36_811-33dup | ||
| ENST00000554550.5:c.*185-36_*185-33dup | ENSP00000451435.1:n.*185-36_*185-33dup | |
| ENST00000554638.5:n.1037-36_1037-33dup | ||
| ENST00000554897.5:c.*252-36_*252-33dup | ENSP00000450942.1:n.*252-36_*252-33dup | |
| ENST00000554944.5:n.914-36_914-33dup | ||
| ENST00000555020.5:n.721-36_721-33dup | ||
| ENST00000555086.5:n.569-36_569-33dup | ||
| ENST00000555214.5:n.386-36_386-33dup | ||
| ENST00000556244.1:c.552-36_552-33dup | ||
| ENST00000556278.1:c.310-36_310-33dup | ENSP00000451792.1:n.310-36_310-33dup | |
| ENST00000556494.5:n.686-36_686-33dup | ||
| ENST00000557706.5:n.1127-36_1127-33dup | ||
| NM_000155.3:c.565-36_565-33dup | NP_000146.2:n.565-36_565-33dup | |
| NM_001258332.1:c.238-36_238-33dup | NP_001245261.1:n.238-36_238-33dup | |
| NM_000155.4:c.565-36_565-33dup MANE Select | NP_000146.2:n.565-36_565-33dup | |
| NM_001258332.2:c.238-36_238-33dup | NP_001245261.1:n.238-36_238-33dup |