Linked Data
dbSNP Id:
rs1900754170
gnomAD v3:
16-9764199-GTCTCTAGGGGAGCTTGAT-G
gnomAD v4:
16-9764199-GTCTCTAGGGGAGCTTGAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9764201_9764218del , CM000678.2:g.9764201_9764218del | GRCh38 |
| NC_000016.9:g.9858058_9858075del , CM000678.1:g.9858058_9858075del | GRCh37 |
| NC_000016.8:g.9765559_9765576del | NCBI36 |
| NG_011812.1:g.423538_423555del | |
| NG_011812.2:g.423538_423555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.3327_3344del MANE Select | ENSP00000332549.3:p.Lys1109_Asp1115delinsAsn | |
| ENST00000535259.6:c.2856_2873del | ENSP00000441572.3:p.Lys952_Asp958delinsAsn | |
| ENST00000636273.2:n.2920_2937del | ||
| ENST00000674742.1:c.2856_2873del | ENSP00000502200.1:p.Lys952_Asp958delinsAsn | |
| ENST00000675398.1:c.*697_*714del | ENSP00000502752.1:n.*697_*714del | |
| ENST00000330684.3:c.3327_3344del | ENSP00000332549.3:p.Lys1109_Asp1115delinsAsn | |
| ENST00000396573.6:c.3327_3344del | ENSP00000379818.2:p.Lys1109_Asp1115delinsAsn | |
| ENST00000396575.6:c.2916_2933del | ENSP00000379820.3:p.Lys972_Asp978delinsAsn | |
| ENST00000461292.3:n.2966_2983del | ||
| ENST00000535259.5:c.2916_2933del | ENSP00000441572.2:p.Lys972_Asp978delinsAsn | |
| ENST00000562109.5:c.3327_3344del | ENSP00000454998.1:p.Lys1109_Asp1115delinsAsn | |
| NM_000833.4:c.3327_3344del | NP_000824.1:p.Lys1109_Asp1115delinsAsn | |
| NM_001134407.2:c.3327_3344del | NP_001127879.1:p.Lys1109_Asp1115delinsAsn | |
| NM_001134408.2:c.3327_3344del | NP_001127880.1:p.Lys1109_Asp1115delinsAsn | |
| XM_011522456.1:c.3168_3185del | XP_011520758.1:p.Lys1056_Asp1062delinsAsn | |
| XM_011522457.1:c.3069_3086del | XP_011520759.1:p.Lys1023_Asp1029delinsAsn | |
| XM_011522458.1:c.2856_2873del | XP_011520760.1:p.Lys952_Asp958delinsAsn | |
| XM_011522459.1:c.2856_2873del | XP_011520761.1:p.Lys952_Asp958delinsAsn | |
| XM_011522460.1:c.2856_2873del | XP_011520762.1:p.Lys952_Asp958delinsAsn | |
| XM_011522461.1:c.3327_3344del | XP_011520763.1:p.Lys1109_Asp1115delinsAsn | |
| XM_011522458.3:c.2856_2873del | XP_011520760.1:p.Lys952_Asp958delinsAsn | |
| XM_011522461.3:c.3327_3344del | XP_011520763.1:p.Lys1109_Asp1115delinsAsn | |
| XM_017023172.1:c.3483_3500del | XP_016878661.1:p.Lys1161_Asp1167delinsAsn | |
| XM_017023173.1:c.3483_3500del | XP_016878662.1:p.Lys1161_Asp1167delinsAsn | |
| NM_001134407.3:c.3327_3344del MANE Select | NP_001127879.1:p.Lys1109_Asp1115delinsAsn | |
| NM_000833.5:c.3327_3344del | NP_000824.1:p.Lys1109_Asp1115delinsAsn |