Linked Data
ClinVar Variation Id:
12995
dbSNP Id:
rs118192171
MyVariant Identifiers:
chr19:g.39075697_39075698delinsAC (hg19)
chr19:g.38585057_38585058delinsAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585057_38585058delinsAC , CM000681.2:g.38585057_38585058delinsAC | GRCh38 |
| NC_000019.9:g.39075697_39075698delinsAC , CM000681.1:g.39075697_39075698delinsAC | GRCh37 |
| NC_000019.8:g.43767537_43767538delinsAC | NCBI36 |
| NG_008866.1:g.156358_156359delinsAC , LRG_766:g.156358_156359delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1697_1698delinsAC | ||
| ENST00000688602.1:c.3094_3095delinsAC | ||
| ENST00000689936.1:c.3066_3067delinsAC | ||
| ENST00000692547.1:n.154_155delinsAC | ||
| ENST00000359596.8:c.14761_14762delinsAC MANE Select | ENSP00000352608.2:p.Phe4921Thr | |
| ENST00000355481.8:c.14746_14747delinsAC | ENSP00000347667.3:p.Phe4916Thr | |
| ENST00000359596.7:c.14761_14762delinsAC | ENSP00000352608.2:p.Phe4921Thr | |
| ENST00000360985.7:c.14743_14744delinsAC | ENSP00000354254.4:p.Phe4915Thr | |
| NM_000540.2:c.14761_14762delinsAC , LRG_766t1:c.14761_14762delinsAC | NP_000531.2:p.Phe4921Thr | |
| NM_001042723.1:c.14746_14747delinsAC | NP_001036188.1:p.Phe4916Thr | |
| XM_006723317.1:c.14743_14744delinsAC | XP_006723380.1:p.Phe4915Thr | |
| XM_006723319.1:c.14728_14729delinsAC | XP_006723382.1:p.Phe4910Thr | |
| XM_011527204.1:c.14758_14759delinsAC | XP_011525506.1:p.Phe4920Thr | |
| XM_011527205.1:c.14674_14675delinsAC | XP_011525507.1:p.Phe4892Thr | |
| XM_006723317.2:c.14743_14744delinsAC | XP_006723380.1:p.Phe4915Thr | |
| XM_006723319.2:c.14728_14729delinsAC | XP_006723382.1:p.Phe4910Thr | |
| XM_011527205.2:c.14674_14675delinsAC | XP_011525507.1:p.Phe4892Thr | |
| NM_000540.3:c.14761_14762delinsAC MANE Select | NP_000531.2:p.Phe4921Thr | |
| NM_001042723.2:c.14746_14747delinsAC | NP_001036188.1:p.Phe4916Thr |