Linked Data
dbSNP Id:
rs1299435739
gnomAD v2:
2-44073553-GAAT-G
gnomAD v3:
2-43846414-GAAT-G
gnomAD v4:
2-43846414-GAAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43846419_43846421del , CM000664.2:g.43846419_43846421del | GRCh38 |
| NC_000002.11:g.44073558_44073560del , CM000664.1:g.44073558_44073560del | GRCh37 |
| NC_000002.10:g.43927062_43927064del | NCBI36 |
| NG_008884.1:g.12456_12458del | |
| NG_008884.2:g.19478_19480del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272286.4:c.322+108_322+110del MANE Select | ENSP00000272286.2:n.322+108_322+110del | |
| ENST00000643284.1:n.887_889del | ||
| ENST00000644611.1:c.334+108_334+110del | ENSP00000495423.1:n.334+108_334+110del | |
| ENST00000272286.2:c.322+108_322+110del | ENSP00000272286.2:n.322+108_322+110del | |
| NM_022437.2:c.322+108_322+110del | NP_071882.1:n.322+108_322+110del | |
| XM_005264483.2:c.322+108_322+110del | XP_005264540.1:n.322+108_322+110del | |
| XM_011533029.1:c.334+108_334+110del | XP_011531331.1:n.334+108_334+110del | |
| XM_011533030.1:c.334+108_334+110del | XP_011531332.1:n.334+108_334+110del | |
| XM_011533031.1:c.106+108_106+110del | XP_011531333.1:n.106+108_106+110del | |
| XR_939707.1:n.824+108_824+110del | ||
| NM_001357321.1:c.322+108_322+110del | NP_001344250.1:n.322+108_322+110del | |
| XM_011533029.2:c.334+108_334+110del | XP_011531331.1:n.334+108_334+110del | |
| XM_011533030.2:c.334+108_334+110del | XP_011531332.1:n.334+108_334+110del | |
| XR_001738891.1:n.838+108_838+110del | ||
| XR_939707.2:n.838+108_838+110del | ||
| NM_022437.3:c.322+108_322+110del MANE Select | NP_071882.1:n.322+108_322+110del | |
| NM_001357321.2:c.322+108_322+110del | NP_001344250.1:n.322+108_322+110del |