Linked Data
ClinVar Variation Id:
18066
ClinVar RCV Id:
RCV000019689
dbSNP Id:
rs387906577
gnomAD v2:
3-148458931-A-AT
gnomAD v3:
3-148741144-A-AT
gnomAD v4:
3-148741144-A-AT
MyVariant Identifiers:
chr3:g.148458932dupT (hg19)
chr3:g.148458931_148458932insT (hg19)
chr3:g.148741145dupT (hg38)
chr3:g.148741144_148741145insT (hg38)
PubMed:
PMID:16116425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148741145dup , CM000665.2:g.148741145dup | GRCh38 |
| NC_000003.11:g.148458932dup , CM000665.1:g.148458932dup | GRCh37 |
| NC_000003.10:g.149941622dup | NCBI36 |
| NG_008468.1:g.48275dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349243.8:c.110dup MANE Select | ENSP00000273430.3:p.Ile38HisfsTer? | |
| ENST00000402260.2:c.110dup | ENSP00000385641.3:p.Ile38HisfsTer? | |
| ENST00000418473.7:c.110dup | ENSP00000398832.4:p.Ile38HisfsTer? | |
| ENST00000349243.7:c.110dup | ENSP00000273430.3:p.Ile38HisfsTer? | |
| ENST00000402260.1:c.197dup | ENSP00000385641.2:p.Ile67HisfsTer? | |
| ENST00000404754.2:c.110dup | ENSP00000385612.2:p.Ile38HisfsTer? | |
| ENST00000418473.6:c.215dup | ENSP00000398832.3:p.Ile73HisfsTer? | |
| ENST00000461609.1:c.110dup | ENSP00000418851.1:p.Ile38HisfsTer? | |
| ENST00000474935.5:c.110dup | ENSP00000418084.1:p.Ile38HisfsTer? | |
| ENST00000475347.5:c.110dup | ENSP00000419783.1:p.Ile38HisfsTer? | |
| ENST00000497524.5:c.110dup | ENSP00000419422.1:p.Ile38HisfsTer? | |
| NM_000685.4:c.110dup | NP_000676.1:p.Ile38HisfsTer? | |
| NM_004835.4:c.215dup | NP_004826.5:p.Ile73HisfsTer? | |
| NM_009585.3:c.110dup | NP_033611.1:p.Ile38HisfsTer? | |
| NM_031850.3:c.215dup | NP_114038.4:p.Ile73HisfsTer? | |
| NM_032049.3:c.197dup | NP_114438.2:p.Ile67HisfsTer? | |
| NM_000685.5:c.110dup MANE Select | NP_000676.1:p.Ile38HisfsTer? | |
| NM_001382736.1:c.110dup | NP_001369665.1:p.Ile38HisfsTer? | |
| NM_001382737.1:c.110dup | NP_001369666.1:p.Ile38HisfsTer? | |
| NM_004835.5:c.110dup | NP_004826.6:p.Ile38HisfsTer? | |
| NM_009585.4:c.110dup | NP_033611.1:p.Ile38HisfsTer? | |
| NM_031850.4:c.110dup | NP_114038.5:p.Ile38HisfsTer? | |
| NM_032049.4:c.110dup | NP_114438.3:p.Ile38HisfsTer? |