Linked Data
ClinVar Variation Id:
417756
ClinVar RCV Id:
RCV000477691
dbSNP Id:
rs1064793001
PubMed:
PMID:28132693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7467506_7467529del , CM000681.2:g.7467506_7467529del | GRCh38 |
| NC_000019.9:g.7532392_7532415del , CM000681.1:g.7532392_7532415del | GRCh37 |
| NC_000019.8:g.7438392_7438415del | NCBI36 |
| NG_047135.1:g.123596_123619del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319670.14:c.2261_2284del | ENSP00000319200.8:p.Arg754_Glu761del | |
| ENST00000359920.11:c.2576_2599del | ENSP00000352995.5:p.Arg859_Glu866del | |
| ENST00000594665.2:c.2264_2287del | ENSP00000470729.2:p.Arg755_Glu762del | |
| ENST00000617428.4:c.2264_2287del | ENSP00000482647.4:p.Arg755_Glu762del | |
| ENST00000668164.2:c.3302_3325del MANE Select | ENSP00000499655.2:p.Arg1101_Glu1108del | |
| ENST00000319670.13:c.2264_2287del | ENSP00000319200.7:p.Arg755_Glu762del | |
| ENST00000359920.10:c.2738_2761del | ENSP00000352995.4:p.Arg913_Glu920del | |
| ENST00000594665.1:c.1653_1676del | ||
| ENST00000617428.2:c.2538_2561del | ||
| NM_001130955.1:c.2738_2761del | NP_001124427.1:p.Arg913_Glu920del | |
| NM_015318.3:c.2264_2287del | NP_056133.2:p.Arg755_Glu762del | |
| XM_005272464.3:c.3497_3520del | XP_005272521.1:p.Arg1166_Glu1173del | |
| XM_006722705.2:c.3302_3325del | XP_006722768.1:p.Arg1101_Glu1108del | |
| XM_006722706.2:c.3302_3325del | XP_006722769.1:p.Arg1101_Glu1108del | |
| XM_006722708.2:c.2264_2287del | XP_006722771.1:p.Arg755_Glu762del | |
| XM_006722709.2:c.2264_2287del | XP_006722772.1:p.Arg755_Glu762del | |
| XM_011527835.1:c.3497_3520del | XP_011526137.1:p.Arg1166_Glu1173del | |
| XM_011527836.1:c.3497_3520del | XP_011526138.1:p.Arg1166_Glu1173del | |
| XM_011527837.1:c.3497_3520del | XP_011526139.1:p.Arg1166_Glu1173del | |
| XM_011527838.1:c.3302_3325del | XP_011526140.1:p.Arg1101_Glu1108del | |
| XM_011527839.1:c.3254_3277del | XP_011526141.1:p.Arg1085_Glu1092del | |
| XM_011527840.1:c.2264_2287del | XP_011526142.1:p.Arg755_Glu762del | |
| XM_005272464.4:c.3497_3520del | XP_005272521.1:p.Arg1166_Glu1173del | |
| XM_006722705.3:c.3302_3325del | XP_006722768.1:p.Arg1101_Glu1108del | |
| XM_006722706.3:c.3302_3325del | XP_006722769.1:p.Arg1101_Glu1108del | |
| XM_011527835.2:c.3497_3520del | XP_011526137.1:p.Arg1166_Glu1173del | |
| XM_011527836.2:c.3497_3520del | XP_011526138.1:p.Arg1166_Glu1173del | |
| XM_011527837.2:c.3497_3520del | XP_011526139.1:p.Arg1166_Glu1173del | |
| XM_011527838.3:c.3302_3325del | XP_011526140.1:p.Arg1101_Glu1108del | |
| XM_011527839.2:c.3254_3277del | XP_011526141.1:p.Arg1085_Glu1092del | |
| XM_011527840.2:c.2264_2287del | XP_011526142.1:p.Arg755_Glu762del | |
| NM_001130955.2:c.2576_2599del | NP_001124427.2:p.Arg859_Glu866del | |
| NM_001367823.1:c.3302_3325del MANE Select | NP_001354752.1:p.Arg1101_Glu1108del | |
| NM_001367824.1:c.2264_2287del | NP_001354753.1:p.Arg755_Glu762del | |
| NM_015318.4:c.2264_2287del | NP_056133.2:p.Arg755_Glu762del |