Linked Data
dbSNP Id:
rs543314307
gnomAD v2:
2-25384792-CCTG-C
gnomAD v3:
2-25161923-CCTG-C
gnomAD v4:
2-25161923-CCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25161926_25161928del , CM000664.2:g.25161926_25161928del | GRCh38 |
| NC_000002.11:g.25384795_25384797del , CM000664.1:g.25384795_25384797del | GRCh37 |
| NC_000002.10:g.25238299_25238301del | NCBI36 |
| NG_008997.1:g.11765_11767del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395826.7:c.133-174_133-172del MANE Select | ENSP00000379170.2:n.133-174_133-172del | |
| ENST00000264708.7:c.133-174_133-172del | ENSP00000264708.3:n.133-174_133-172del | |
| ENST00000380794.5:c.133-174_133-172del | ENSP00000370171.1:n.133-174_133-172del | |
| ENST00000395826.6:c.133-174_133-172del | ENSP00000379170.2:n.133-174_133-172del | |
| ENST00000405623.5:c.133-174_133-172del | ENSP00000384092.1:n.133-174_133-172del | |
| ENST00000449220.1:c.133-174_133-172del | ENSP00000387993.1:n.133-174_133-172del | |
| NM_000939.2:c.133-174_133-172del | NP_000930.1:n.133-174_133-172del | |
| NM_001035256.1:c.133-174_133-172del | NP_001030333.1:n.133-174_133-172del | |
| XM_011532917.1:c.133-174_133-172del | XP_011531219.1:n.133-174_133-172del | |
| NM_000939.3:c.133-174_133-172del | NP_000930.1:n.133-174_133-172del | |
| NM_001035256.2:c.133-174_133-172del | NP_001030333.1:n.133-174_133-172del | |
| NM_001319204.1:c.133-174_133-172del | NP_001306133.1:n.133-174_133-172del | |
| NM_001319205.1:c.133-174_133-172del | NP_001306134.1:n.133-174_133-172del | |
| NM_000939.4:c.133-174_133-172del MANE Select | NP_000930.1:n.133-174_133-172del | |
| NM_001319204.2:c.133-174_133-172del | NP_001306133.1:n.133-174_133-172del | |
| NM_001319205.2:c.133-174_133-172del | NP_001306134.1:n.133-174_133-172del | |
| NM_001035256.3:c.133-174_133-172del | NP_001030333.1:n.133-174_133-172del |