Linked Data
dbSNP Id:
rs1032810292
gnomAD v2:
7-117243228-C-CTAAAA
gnomAD v3:
7-117603174-C-CTAAAA
gnomAD v4:
7-117603174-C-CTAAAA
MyVariant Identifiers:
chr7:g.117243228_117243229insTAAAA (hg19)
chr7:g.117603174_117603175insTAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603191_117603195dup , CM000669.2:g.117603191_117603195dup | GRCh38 |
| NC_000007.13:g.117243245_117243249dup , CM000669.1:g.117243245_117243249dup | GRCh37 |
| NC_000007.12:g.117030481_117030485dup | NCBI36 |
| NG_016465.4:g.142408_142412dup , LRG_663:g.142408_142412dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2657+328_2657+332dup | ENSP00000497673.2:n.2657+328_2657+332dup | |
| ENST00000647978.2:c.*2371+328_*2371+332dup | ENSP00000497658.1:n.*2371+328_*2371+332dup | |
| ENST00000649781.2:c.2474+328_2474+332dup | ENSP00000497203.1:n.2474+328_2474+332dup | |
| ENST00000685018.2:c.2657+328_2657+332dup | ENSP00000510194.2:n.2657+328_2657+332dup | |
| ENST00000687278.2:c.2657+328_2657+332dup | ENSP00000509593.2:n.2657+328_2657+332dup | |
| ENST00000699585.1:c.2657+328_2657+332dup | ENSP00000514456.1:n.2657+328_2657+332dup | |
| ENST00000699598.1:c.2657+328_2657+332dup | ENSP00000514467.1:n.2657+328_2657+332dup | |
| ENST00000699599.1:c.2657+328_2657+332dup | ENSP00000514468.1:n.2657+328_2657+332dup | |
| ENST00000699600.1:c.2657+328_2657+332dup | ENSP00000514469.1:n.2657+328_2657+332dup | |
| ENST00000699601.1:c.*957+328_*957+332dup | ENSP00000514470.1:n.*957+328_*957+332dup | |
| ENST00000699602.1:c.2657+328_2657+332dup | ENSP00000514471.1:n.2657+328_2657+332dup | |
| ENST00000699604.1:c.*2481+328_*2481+332dup | ENSP00000514472.1:n.*2481+328_*2481+332dup | |
| ENST00000699605.1:c.2231+328_2231+332dup | ENSP00000514473.1:n.2231+328_2231+332dup | |
| ENST00000687278.1:c.248+328_248+332dup | ENSP00000509593.1:n.248+328_248+332dup | |
| ENST00000003084.11:c.2657+328_2657+332dup MANE Select | ENSP00000003084.6:n.2657+328_2657+332dup | |
| ENST00000647720.1:c.307+328_307+332dup | ||
| ENST00000648260.1:c.1439+328_1439+332dup | ENSP00000497957.1:n.1439+328_1439+332dup | |
| ENST00000649406.1:c.2474+328_2474+332dup | ENSP00000497965.1:n.2474+328_2474+332dup | |
| ENST00000649781.1:c.2474+328_2474+332dup | ENSP00000497203.1:n.2474+328_2474+332dup | |
| ENST00000003084.10:c.2657+328_2657+332dup | ENSP00000003084.6:n.2657+328_2657+332dup | |
| ENST00000426809.5:c.2567+328_2567+332dup | ENSP00000389119.1:n.2567+328_2567+332dup | |
| NM_000492.3:c.2657+328_2657+332dup , LRG_663t1:c.2657+328_2657+332dup | NP_000483.3:n.2657+328_2657+332dup | |
| XM_011515751.1:c.2747+328_2747+332dup | XP_011514053.1:n.2747+328_2747+332dup | |
| XM_011515752.1:c.2747+328_2747+332dup | XP_011514054.1:n.2747+328_2747+332dup | |
| XM_011515753.1:c.2414+328_2414+332dup | XP_011514055.1:n.2414+328_2414+332dup | |
| XM_011515754.1:c.2414+328_2414+332dup | XP_011514056.1:n.2414+328_2414+332dup | |
| NM_000492.4:c.2657+328_2657+332dup MANE Select | NP_000483.3:n.2657+328_2657+332dup |