Linked Data
ClinVar Variation Id:
268085
dbSNP Id:
rs1057517671
gnomAD v2:
14-91700726-CTT-C
gnomAD v4:
14-91234382-CTT-C
PubMed:
PMID:27693231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91234383_91234384del , CM000676.2:g.91234383_91234384del | GRCh38 |
| NC_000014.8:g.91700727_91700728del , CM000676.1:g.91700727_91700728del | GRCh37 |
| NC_000014.7:g.90770480_90770481del | NCBI36 |
| NG_052988.1:g.24497_24498del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650645.1:c.667_668del MANE Select | ENSP00000498702.1:p.Lys223GlyfsTer? | |
| ENST00000529102.1:c.667_668del | ENSP00000432740.1:p.Lys223GlyfsTer? | |
| ENST00000531499.2:c.667_668del | ENSP00000434045.2:p.Lys223GlyfsTer? | |
| ENST00000535815.5:c.667_668del | ENSP00000440797.1:p.Lys223GlyfsTer? | |
| NM_001177676.1:c.667_668del | NP_001171147.1:p.Lys223GlyfsTer? | |
| NM_003485.3:c.667_668del | NP_003476.3:p.Lys223GlyfsTer? | |
| XM_005268110.3:c.697_698del | XP_005268167.1:p.Lys233GlyfsTer? | |
| XM_005268111.2:c.697_698del | XP_005268168.1:p.Lys233GlyfsTer? | |
| XM_005268112.2:c.697_698del | XP_005268169.1:p.Lys233GlyfsTer? | |
| XM_006720262.2:c.697_698del | XP_006720325.1:p.Lys233GlyfsTer? | |
| XM_011537196.1:c.697_698del | XP_011535498.1:p.Lys233GlyfsTer? | |
| XM_011537197.1:c.697_698del | XP_011535499.1:p.Lys233GlyfsTer? | |
| XM_011537198.1:c.697_698del | XP_011535500.1:p.Lys233GlyfsTer? | |
| XM_011537199.1:c.697_698del | XP_011535501.1:p.Lys233GlyfsTer? | |
| XM_011537200.1:c.697_698del | XP_011535502.1:p.Lys233GlyfsTer? | |
| NM_001348437.1:c.667_668del | NP_001335366.1:p.Lys223GlyfsTer? | |
| XM_005268110.4:c.697_698del | XP_005268167.1:p.Lys233GlyfsTer? | |
| XM_005268111.3:c.697_698del | XP_005268168.1:p.Lys233GlyfsTer? | |
| XM_005268112.3:c.697_698del | XP_005268169.1:p.Lys233GlyfsTer? | |
| XM_006720262.3:c.697_698del | XP_006720325.1:p.Lys233GlyfsTer? | |
| XM_011537196.2:c.697_698del | XP_011535498.1:p.Lys233GlyfsTer? | |
| XM_011537197.3:c.697_698del | XP_011535499.1:p.Lys233GlyfsTer? | |
| XM_011537198.2:c.697_698del | XP_011535500.1:p.Lys233GlyfsTer? | |
| XM_011537199.2:c.697_698del | XP_011535501.1:p.Lys233GlyfsTer? | |
| NM_001177676.2:c.667_668del MANE Select | NP_001171147.1:p.Lys223GlyfsTer? |