Linked Data
ClinVar Variation Id:
1018
dbSNP Id:
rs387906242
ExAC:
3:128598490 C / CTAAG
gnomAD v2:
3-128598490-C-CTAAG
gnomAD v3:
3-128879647-C-CTAAG
gnomAD v4:
3-128879647-C-CTAAG
MyVariant Identifiers:
chr3:g.128598491_128598494dupTAAG (hg19)
chr3:g.128598490_128598491insTAAG (hg19)
chr3:g.128879648_128879651dupTAAG (hg38)
chr3:g.128879647_128879648insTAAG (hg38)
PubMed:
PMID:17564966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128879648_128879651dup , CM000665.2:g.128879648_128879651dup | GRCh38 |
| NC_000003.11:g.128598491_128598494dup , CM000665.1:g.128598491_128598494dup | GRCh37 |
| NC_000003.10:g.130081181_130081184dup | NCBI36 |
| NG_017064.1:g.5159_5162dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308982.12:c.-44_-41dup MANE Select | ENSP00000312618.7:n.-44_-41dup | |
| ENST00000511325.2:n.35_38dup | ||
| ENST00000679399.1:c.-44_-41dup | ENSP00000505434.1:n.-44_-41dup | |
| ENST00000679431.1:c.-44_-41dup | ENSP00000506440.1:n.-44_-41dup | |
| ENST00000679613.1:c.-44_-41dup | ENSP00000504971.1:n.-44_-41dup | |
| ENST00000679990.1:n.20_23dup | ||
| ENST00000680636.1:c.-44_-41dup | ENSP00000504886.1:n.-44_-41dup | |
| ENST00000680764.1:c.-44_-41dup | ENSP00000505126.1:n.-44_-41dup | |
| ENST00000681319.1:n.35_38dup | ||
| ENST00000681367.1:c.-44_-41dup | ENSP00000505309.1:n.-44_-41dup | |
| ENST00000681552.1:c.-44_-41dup | ENSP00000505699.1:n.-44_-41dup | |
| ENST00000681583.1:c.-44_-41dup | ENSP00000506340.1:n.-44_-41dup | |
| ENST00000681585.1:c.-44_-41dup | ENSP00000506316.1:n.-44_-41dup | |
| ENST00000681784.1:n.35_38dup | ||
| ENST00000681886.1:c.-44_-41dup | ENSP00000506500.1:n.-44_-41dup | |
| ENST00000308982.11:c.-44_-41dup | ENSP00000312618.7:n.-44_-41dup | |
| ENST00000505192.5:c.-44_-41dup | ENSP00000426277.1:n.-44_-41dup | |
| ENST00000505602.1:n.53_56dup | ||
| ENST00000505867.5:c.-44_-41dup | ENSP00000425346.1:n.-44_-41dup | |
| ENST00000511227.5:c.-44_-41dup | ENSP00000425226.1:n.-44_-41dup | |
| ENST00000512801.5:c.-44_-41dup | ENSP00000427283.1:n.-44_-41dup | |
| ENST00000514336.1:c.-44_-41dup | ENSP00000423758.1:n.-44_-41dup | |
| ENST00000514643.5:c.-44_-41dup | ENSP00000422020.1:n.-44_-41dup | |
| ENST00000515429.1:c.-44_-41dup | ENSP00000426189.1:n.-44_-41dup | |
| NM_014049.4:c.-44_-41dup | NP_054768.2:n.-44_-41dup | |
| NR_033426.1:n.159_162dup | ||
| XM_011512742.1:c.-683_-680dup | XP_011511044.1:n.-683_-680dup | |
| XR_427367.1:n.29_32dup | ||
| XM_024453484.1:c.-683_-680dup | XP_024309252.1:n.-683_-680dup | |
| XM_024453485.1:c.-319_-316dup | XP_024309253.1:n.-319_-316dup | |
| XR_427367.3:n.29_32dup | ||
| NM_014049.5:c.-44_-41dup MANE Select | NP_054768.2:n.-44_-41dup | |
| NR_033426.2:n.29_32dup |