Linked Data
dbSNP Id:
rs768017979
ExAC:
11:116707804 AG / A
gnomAD v2:
11-116707804-AG-A
gnomAD v3:
11-116837088-AG-A
gnomAD v4:
11-116837088-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116837090del , CM000673.2:g.116837090del | GRCh38 |
| NC_000011.9:g.116707806del , CM000673.1:g.116707806del | GRCh37 |
| NC_000011.8:g.116213016del | NCBI36 |
| NG_012021.1:g.5534del , LRG_767:g.5534del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.112del (APOA1) MANE Select | ENSP00000236850.3:p.Leu38TrpfsTer29 | |
| ENST00000236850.4:c.112del (APOA1) | ENSP00000236850.3:p.Leu38TrpfsTer29 | |
| ENST00000359492.6:c.112del (APOA1) | ENSP00000352471.2:p.Leu38TrpfsTer29 | |
| ENST00000375320.5:c.112del (APOA1) | ENSP00000364469.1:p.Leu38TrpfsTer29 | |
| ENST00000375323.5:c.112del (APOA1) | ENSP00000364472.1:p.Leu38TrpfsTer29 | |
| ENST00000375329.6:c.134+256del (APOA1) | ENSP00000364478.2:n.134+256del | |
| NM_000039.1:c.112del , LRG_767t1:c.112del (APOA1) | NP_000030.1:p.Leu38TrpfsTer29 | |
| NR_126362.1:n.123+851del (APOA1-AS) | ||
| XM_005271539.2:c.112del (APOA1) | XP_005271596.1:p.Leu38TrpfsTer29 | |
| XM_005271540.1:c.112del (APOA1) | XP_005271597.1:p.Leu38TrpfsTer29 | |
| NM_000039.2:c.112del (APOA1) | NP_000030.1:p.Leu38TrpfsTer29 | |
| NM_001318017.1:c.112del (APOA1) | NP_001304946.1:p.Leu38TrpfsTer29 | |
| NM_001318018.1:c.112del (APOA1) | NP_001304947.1:p.Leu38TrpfsTer29 | |
| NM_001318021.1:c.-216del (APOA1) | NP_001304950.1:n.-216del | |
| NM_001318017.2:c.112del (APOA1) | NP_001304946.1:p.Leu38TrpfsTer29 | |
| NM_001318018.2:c.112del (APOA1) | NP_001304947.1:p.Leu38TrpfsTer29 | |
| NM_000039.3:c.112del (APOA1) MANE Select | NP_000030.1:p.Leu38TrpfsTer29 |