Linked Data
dbSNP Id:
rs397515597
ExAC:
2:26698794 ACT / A
gnomAD v2:
2-26698794-ACT-A
gnomAD v3:
2-26475926-ACT-A
gnomAD v4:
2-26475926-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26475929_26475930del , CM000664.2:g.26475929_26475930del | GRCh38 |
| NC_000002.11:g.26698797_26698798del , CM000664.1:g.26698797_26698798del | GRCh37 |
| NC_000002.10:g.26552301_26552302del | NCBI36 |
| NG_009937.1:g.87771_87772del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.2977_2978del MANE Select | ENSP00000272371.2:p.Gln994ValfsTer7 | |
| ENST00000339598.8:c.736_737del MANE Plus Clinical | ENSP00000344521.3:p.Gln247ValfsTer7 | |
| ENST00000402415.8:c.736_737del | ENSP00000383906.4:p.Gln247ValfsTer7 | |
| ENST00000272371.6:c.2977_2978del | ENSP00000272371.2:p.Gln994ValfsTer7 | |
| ENST00000338581.10:c.736_737del | ENSP00000345137.6:p.Gln247ValfsTer7 | |
| ENST00000339598.7:c.736_737del | ENSP00000344521.3:p.Gln247ValfsTer7 | |
| ENST00000402415.7:c.907_908del | ENSP00000383906.3:p.Gln304ValfsTer7 | |
| ENST00000403946.7:c.2977_2978del | ENSP00000385255.3:p.Gln994ValfsTer7 | |
| NM_001287489.1:c.2977_2978del | NP_001274418.1:p.Gln994ValfsTer7 | |
| NM_004802.3:c.736_737del | NP_004793.2:p.Gln247ValfsTer7 | |
| NM_194248.2:c.2977_2978del | NP_919224.1:p.Gln994ValfsTer7 | |
| NM_194322.2:c.907_908del | NP_919303.1:p.Gln304ValfsTer7 | |
| NM_194323.2:c.736_737del | NP_919304.1:p.Gln247ValfsTer7 | |
| XM_005264644.2:c.3022_3023del | XP_005264701.1:p.Gln1009ValfsTer7 | |
| XM_011533185.1:c.3022_3023del | XP_011531487.1:p.Gln1009ValfsTer7 | |
| XM_017005338.1:c.2977_2978del | XP_016860827.1:p.Gln994ValfsTer7 | |
| NM_001287489.2:c.2977_2978del | NP_001274418.1:p.Gln994ValfsTer7 | |
| NM_004802.4:c.736_737del | NP_004793.2:p.Gln247ValfsTer7 | |
| NM_194248.3:c.2977_2978del MANE Select | NP_919224.1:p.Gln994ValfsTer7 | |
| NM_194322.3:c.907_908del | NP_919303.1:p.Gln304ValfsTer7 | |
| NM_194323.3:c.736_737del MANE Plus Clinical | NP_919304.1:p.Gln247ValfsTer7 |