MyVariant.info:
GRCh38
chr7:g.117652876del
GRCh38
chr7:g.117652871del
GRCh37
chr7:g.117292930del
GRCh37
chr7:g.117292925del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117652876del , CM000669.2:g.117652876del | GRCh38 |
| NC_000007.13:g.117292930del , CM000669.1:g.117292930del | GRCh37 |
| NC_000007.12:g.117080166del | NCBI36 |
| NG_016465.4:g.192093del , LRG_663:g.192093del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*117del | ENSP00000497673.2:n.*117del | |
| ENST00000647978.2:c.*3622del | ENSP00000497658.1:n.*3622del | |
| ENST00000649781.2:c.3725del | ENSP00000497203.1:p.Asn1242ThrfsTer25 | |
| ENST00000685018.2:c.*121del | ENSP00000510194.2:n.*121del | |
| ENST00000687278.2:c.*561del | ENSP00000509593.2:n.*561del | |
| ENST00000699585.1:c.*117del | ENSP00000514456.1:n.*117del | |
| ENST00000699598.1:c.3908del | ENSP00000514467.1:p.Asn1303ThrfsTer25 | |
| ENST00000699599.1:c.*121del | ENSP00000514468.1:n.*121del | |
| ENST00000699600.1:c.*569del | ENSP00000514469.1:n.*569del | |
| ENST00000699601.1:c.*2283del | ENSP00000514470.1:n.*2283del | |
| ENST00000699602.1:c.3902del | ENSP00000514471.1:p.Asn1301ThrfsTer25 | |
| ENST00000699604.1:c.*3732del | ENSP00000514472.1:n.*3732del | |
| ENST00000699605.1:c.3482del | ENSP00000514473.1:p.Asn1161ThrfsTer25 | |
| ENST00000699606.1:n.2076del | ||
| ENST00000685018.1:c.772del | ENSP00000510194.1:n.772del | |
| ENST00000687278.1:c.1695del | ENSP00000509593.1:n.1695del | |
| ENST00000689011.1:c.490del | ||
| ENST00000003084.11:c.3908del MANE Select | ENSP00000003084.6:p.Asn1303ThrfsTer25 | |
| ENST00000647720.1:c.1358del | ||
| ENST00000649781.1:c.3725del | ENSP00000497203.1:p.Asn1242ThrfsTer25 | |
| ENST00000003084.10:c.3908del | ENSP00000003084.6:p.Asn1303ThrfsTer25 | |
| ENST00000426809.5:c.3818del | ENSP00000389119.1:p.Asn1273ThrfsTer25 | |
| ENST00000600166.1:c.34del | ||
| NM_000492.3:c.3908del , LRG_663t1:c.3908del | NP_000483.3:p.Asn1303ThrfsTer25 | |
| XM_011515751.1:c.3998del | XP_011514053.1:p.Asn1333ThrfsTer25 | |
| XM_011515752.1:c.3998del | XP_011514054.1:p.Asn1333ThrfsTer25 | |
| XM_011515753.1:c.3665del | XP_011514055.1:p.Asn1222ThrfsTer25 | |
| XM_011515754.1:c.3665del | XP_011514056.1:p.Asn1222ThrfsTer25 | |
| NM_000492.4:c.3908del MANE Select | NP_000483.3:p.Asn1303ThrfsTer25 |