Linked Data
ClinVar Variation Id:
30388
dbSNP Id:
rs387906870
ExAC:
4:89039309 TAA / T
gnomAD v2:
4-89039309-TAA-T
gnomAD v3:
4-88118157-TAA-T
gnomAD v4:
4-88118157-TAA-T
PubMed:
PMID:22246505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88118158_88118159del , CM000666.2:g.88118158_88118159del | GRCh38 |
| NC_000004.11:g.89039310_89039311del , CM000666.1:g.89039310_89039311del | GRCh37 |
| NC_000004.10:g.89258334_89258335del | NCBI36 |
| NG_032067.2:g.118164_118165del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237612.8:c.791_792del MANE Select | ENSP00000237612.3:p.Leu264HisfsTer14 | |
| ENST00000650821.1:c.791_792del | ENSP00000498246.1:p.Leu264HisfsTer14 | |
| ENST00000237612.7:c.791_792del | ENSP00000237612.3:p.Leu264HisfsTer14 | |
| ENST00000515655.5:c.791_792del | ENSP00000426917.1:p.Leu264HisfsTer14 | |
| NM_001257386.1:c.791_792del | NP_001244315.1:p.Leu264HisfsTer14 | |
| NM_004827.2:c.791_792del | NP_004818.2:p.Leu264HisfsTer14 | |
| XM_005263354.2:c.791_792del | XP_005263411.1:p.Leu264HisfsTer14 | |
| XM_005263355.2:c.791_792del | XP_005263412.1:p.Leu264HisfsTer14 | |
| XM_005263356.2:c.791_792del | XP_005263413.1:p.Leu264HisfsTer14 | |
| XM_011532420.1:c.791_792del | XP_011530722.1:p.Leu264HisfsTer14 | |
| NM_001257386.2:c.791_792del | NP_001244315.1:p.Leu264HisfsTer14 | |
| NM_001348985.1:c.791_792del | NP_001335914.1:p.Leu264HisfsTer14 | |
| NM_001348986.1:c.791_792del | NP_001335915.1:p.Leu264HisfsTer14 | |
| NM_001348987.1:c.791_792del | NP_001335916.1:p.Leu264HisfsTer14 | |
| NM_001348988.1:c.791_792del | NP_001335917.1:p.Leu264HisfsTer14 | |
| NM_001348989.1:c.791_792del | NP_001335918.1:p.Leu264HisfsTer14 | |
| XM_005263355.4:c.791_792del | XP_005263412.1:p.Leu264HisfsTer14 | |
| XM_011532420.3:c.791_792del | XP_011530722.1:p.Leu264HisfsTer14 | |
| XM_017008852.2:c.791_792del | XP_016864341.1:p.Leu264HisfsTer14 | |
| NM_004827.3:c.791_792del MANE Select | NP_004818.2:p.Leu264HisfsTer14 | |
| NM_001348989.2:c.791_792del | NP_001335918.1:p.Leu264HisfsTer14 |