Linked Data
ClinVar Variation Id:
16268
dbSNP Id:
rs587776833
gnomAD v4:
5-180614073-GAGA-G
PubMed:
PMID:12960217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180614077_180614079del , CM000667.2:g.180614077_180614079del | GRCh38 |
| NC_000005.9:g.180041077_180041079del , CM000667.1:g.180041077_180041079del | GRCh37 |
| NC_000005.8:g.179973683_179973685del | NCBI36 |
| NG_011536.1:g.40549_40551del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261937.11:c.3323_3325del MANE Select | ENSP00000261937.6:p.Phe1108del | |
| ENST00000261937.10:c.3323_3325del | ENSP00000261937.6:p.Phe1108del | |
| ENST00000393347.7:c.3323_3325del | ENSP00000377016.3:p.Phe1108del | |
| ENST00000502649.5:c.3323_3325del | ENSP00000426057.1:p.Phe1108del | |
| ENST00000507059.5:n.2716_2718del | ||
| ENST00000619105.4:c.*2266_*2268del | ENSP00000481134.1:n.*2266_*2268del | |
| NM_002020.4:c.3323_3325del | NP_002011.2:p.Phe1108del | |
| NM_182925.4:c.3323_3325del | NP_891555.2:p.Phe1108del | |
| XM_011534477.1:c.3572_3574del | XP_011532779.1:p.Phe1191del | |
| XM_011534478.1:c.3554_3556del | XP_011532780.1:p.Phe1185del | |
| XM_011534479.1:c.3572_3574del | XP_011532781.1:p.Phe1191del | |
| XM_011534480.1:c.3572_3574del | XP_011532782.1:p.Phe1191del | |
| XM_011534481.1:c.3572_3574del | XP_011532783.1:p.Phe1191del | |
| XM_011534482.1:c.3341_3343del | XP_011532784.1:p.Phe1114del | |
| XM_011534483.1:c.3263_3265del | XP_011532785.1:p.Phe1088del | |
| XM_011534484.1:c.2864_2866del | XP_011532786.1:p.Phe955del | |
| XR_941095.1:n.3584_3586del | ||
| NM_001354989.1:c.3323_3325del | NP_001341918.1:p.Phe1108del | |
| XM_011534478.3:c.3554_3556del | XP_011532780.1:p.Phe1185del | |
| XM_011534484.2:c.2864_2866del | XP_011532786.1:p.Phe955del | |
| XM_017009263.1:c.3554_3556del | XP_016864752.1:p.Phe1185del | |
| XM_017009264.2:c.3554_3556del | XP_016864753.1:p.Phe1185del | |
| XM_017009265.1:c.3554_3556del | XP_016864754.1:p.Phe1185del | |
| XM_017009266.1:c.3554_3556del | XP_016864755.1:p.Phe1185del | |
| XM_017009267.2:c.3554_3556del | XP_016864756.1:p.Phe1185del | |
| XM_017009268.1:c.3245_3247del | XP_016864757.1:p.Phe1082del | |
| XR_001742050.2:n.3788_3790del | ||
| NM_182925.5:c.3323_3325del MANE Select | NP_891555.2:p.Phe1108del | |
| NM_001354989.2:c.3323_3325del | NP_001341918.1:p.Phe1108del | |
| NM_002020.5:c.3323_3325del | NP_002011.2:p.Phe1108del |