Linked Data
ClinVar Variation Id:
420588
dbSNP Id:
rs1064794572
gnomAD v2:
19-39075695-CCTT-C
gnomAD v4:
19-38585055-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585066_38585068del , CM000681.2:g.38585066_38585068del | GRCh38 |
| NC_000019.9:g.39075706_39075708del , CM000681.1:g.39075706_39075708del | GRCh37 |
| NC_000019.8:g.43767546_43767548del | NCBI36 |
| NG_008866.1:g.156367_156369del , LRG_766:g.156367_156369del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1706_1708del | ||
| ENST00000688602.1:c.3103_3105del | ||
| ENST00000689936.1:c.3075_3077del | ||
| ENST00000692547.1:n.163_165del | ||
| ENST00000359596.8:c.14770_14772del MANE Select | ENSP00000352608.2:p.Phe4924del | |
| ENST00000355481.8:c.14755_14757del | ENSP00000347667.3:p.Phe4919del | |
| ENST00000359596.7:c.14770_14772del | ENSP00000352608.2:p.Phe4924del | |
| ENST00000360985.7:c.14752_14754del | ENSP00000354254.4:p.Phe4918del | |
| NM_000540.2:c.14770_14772del , LRG_766t1:c.14770_14772del | NP_000531.2:p.Phe4924del | |
| NM_001042723.1:c.14755_14757del | NP_001036188.1:p.Phe4919del | |
| XM_006723317.1:c.14752_14754del | XP_006723380.1:p.Phe4918del | |
| XM_006723319.1:c.14737_14739del | XP_006723382.1:p.Phe4913del | |
| XM_011527204.1:c.14767_14769del | XP_011525506.1:p.Phe4923del | |
| XM_011527205.1:c.14683_14685del | XP_011525507.1:p.Phe4895del | |
| XM_006723317.2:c.14752_14754del | XP_006723380.1:p.Phe4918del | |
| XM_006723319.2:c.14737_14739del | XP_006723382.1:p.Phe4913del | |
| XM_011527205.2:c.14683_14685del | XP_011525507.1:p.Phe4895del | |
| NM_000540.3:c.14770_14772del MANE Select | NP_000531.2:p.Phe4924del | |
| NM_001042723.2:c.14755_14757del | NP_001036188.1:p.Phe4919del |