MyVariant.info:
GRCh38
chr9:g.4576754_4576756del
GRCh38
chr9:g.4576751_4576753del
GRCh38
chr9:g.4576750_4576752del
GRCh37
chr9:g.4576754_4576756del
GRCh37
chr9:g.4576750_4576752del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002555 (NFE)
Genomes Max Group AF
0.00003761 (NFE)
Exomes Max Group AF
0.00002201 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4576754_4576756del , CM000671.2:g.4576754_4576756del | GRCh38 |
| NC_000009.11:g.4576754_4576756del , CM000671.1:g.4576754_4576756del | GRCh37 |
| NC_000009.10:g.4566754_4566756del | NCBI36 |
| NG_017044.1:g.91328_91330del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.1184_1186del (SLC1A1) MANE Select | ENSP00000262352.3:p.Ile395del | |
| ENST00000262352.7:c.1184_1186del (SLC1A1) | ENSP00000262352.3:p.Ile395del | |
| ENST00000422398.1:c.471_473del (SLC1A1) | ||
| ENST00000485616.5:c.*782-22364_*782-22362del (SPATA6L) | ENSP00000420003.1:n.*782-22364_*782-22362del | |
| NM_004170.5:c.1184_1186del (SLC1A1) | NP_004161.4:p.Ile395del | |
| XM_011518007.1:c.1253_1255del (SLC1A1) | XP_011516309.1:p.Ile418del | |
| XM_011518008.1:c.1193_1195del (SLC1A1) | XP_011516310.1:p.Ile398del | |
| XM_011518009.1:c.1124_1126del (SLC1A1) | XP_011516311.1:p.Ile375del | |
| XM_011518010.1:c.1043_1045del (SLC1A1) | XP_011516312.1:p.Ile348del | |
| XM_011518008.3:c.1193_1195del (SLC1A1) | XP_011516310.1:p.Ile398del | |
| XM_011518009.3:c.1124_1126del (SLC1A1) | XP_011516311.1:p.Ile375del | |
| XM_017014882.2:c.*1+27427_*1+27429del (SPATA6L) | XP_016870371.1:n.*1+27427_*1+27429del | |
| XM_017015042.1:c.1145_1147del (SLC1A1) | XP_016870531.1:p.Ile382del | |
| XM_017015043.1:c.1076_1078del (SLC1A1) | XP_016870532.1:p.Ile359del | |
| XR_001746335.2:n.1478+23901_1478+23903del (SPATA6L) | ||
| NM_004170.6:c.1184_1186del (SLC1A1) MANE Select | NP_004161.4:p.Ile395del |