Linked Data
dbSNP Id:
rs756358379
MyVariant Identifiers:
chr9:g.123725053_123725054insATTTTATGTAT (hg19)
chr9:g.120962775_120962776insATTTTATGTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962775_120962776insATTTTATGTAT , CM000671.2:g.120962775_120962776insATTTTATGTAT | GRCh38 |
| NC_000009.11:g.123725053_123725054insATTTTATGTAT , CM000671.1:g.123725053_123725054insATTTTATGTAT | GRCh37 |
| NC_000009.10:g.122764874_122764875insATTTTATGTAT | NCBI36 |
| NG_007364.1:g.92501_92502insATACATAAAAT , LRG_28:g.92501_92502insATACATAAAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1433_1434insATACATAAAAT | ||
| ENST00000696279.1:c.4719_4720insATACATAAAAT | ||
| ENST00000696280.1:n.4488_4489insATACATAAAAT | ||
| ENST00000696281.1:c.4417_4418insATACATAAAAT | ENSP00000512521.1:p.Ile1473AsnfsTer3 | |
| ENST00000697921.1:n.3277_3278insATACATAAAAT | ||
| ENST00000697922.1:c.*4389_*4390insATACATAAAAT | ENSP00000513478.1:n.*4389_*4390insATACATAAAAT | |
| ENST00000697923.1:n.4844_4845insATACATAAAAT | ||
| ENST00000223642.3:c.4399_4400insATACATAAAAT MANE Select | ENSP00000223642.1:p.Ile1467AsnfsTer3 | |
| ENST00000223642.2:c.4399_4400insATACATAAAAT | ENSP00000223642.1:p.Ile1467AsnfsTer3 | |
| NM_001735.2:c.4399_4400insATACATAAAAT , LRG_28t1:c.4399_4400insATACATAAAAT | NP_001726.2:p.Ile1467AsnfsTer3 | |
| XM_011518980.1:c.4414_4415insATACATAAAAT | XP_011517282.1:p.Ile1472AsnfsTer3 | |
| NM_001317163.1:c.4417_4418insATACATAAAAT | NP_001304092.1:p.Ile1473AsnfsTer3 | |
| NM_001317163.2:c.4417_4418insATACATAAAAT | NP_001304092.1:p.Ile1473AsnfsTer3 | |
| NM_001735.3:c.4399_4400insATACATAAAAT MANE Select | NP_001726.2:p.Ile1467AsnfsTer3 |