Linked Data
dbSNP Id:
rs755397250
ExAC:
2:44104754 TGAA / T
gnomAD v2:
2-44104754-TGAA-T
gnomAD v3:
2-43877615-TGAA-T
gnomAD v4:
2-43877615-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877618_43877620del , CM000664.2:g.43877618_43877620del | GRCh38 |
| NC_000002.11:g.44104757_44104759del , CM000664.1:g.44104757_44104759del | GRCh37 |
| NC_000002.10:g.43958261_43958263del | NCBI36 |
| NG_008884.1:g.43655_43657del | |
| NG_008884.2:g.50677_50679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1814_1816del MANE Select | ENSP00000272286.2:p.Lys605del | |
| ENST00000272286.2:c.1814_1816del | ENSP00000272286.2:p.Lys605del | |
| NM_022437.2:c.1814_1816del | NP_071882.1:p.Lys605del | |
| XM_005264483.2:c.1811_1813del | XP_005264540.1:p.Lys604del | |
| XM_011533029.1:c.1826_1828del | XP_011531331.1:p.Lys609del | |
| XM_011533030.1:c.1823_1825del | XP_011531332.1:p.Lys608del | |
| XM_011533031.1:c.1598_1600del | XP_011531333.1:p.Lys533del | |
| XR_939707.1:n.2316_2318del | ||
| NM_001357321.1:c.1811_1813del | NP_001344250.1:p.Lys604del | |
| XM_011533029.2:c.1826_1828del | XP_011531331.1:p.Lys609del | |
| XM_011533030.2:c.1823_1825del | XP_011531332.1:p.Lys608del | |
| XR_001738891.1:n.2330_2332del | ||
| XR_939707.2:n.2330_2332del | ||
| NM_022437.3:c.1814_1816del MANE Select | NP_071882.1:p.Lys605del | |
| NM_001357321.2:c.1811_1813del | NP_001344250.1:p.Lys604del |