Linked Data
ClinVar Variation Id:
161154
ClinVar RCV Id:
RCV000148335
dbSNP Id:
rs397515382
MyVariant Identifiers:
chr19:g.42471091_42471093dupAGT (hg19)
chr19:g.42471090_42471091insAGT (hg19)
chr19:g.41966939_41966941dupAGT (hg38)
chr19:g.41966938_41966939insAGT (hg38)
PubMed:
PMID:20301294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41966944_41966946dup , CM000681.2:g.41966944_41966946dup | GRCh38 |
| NC_000019.9:g.42471096_42471098dup , CM000681.1:g.42471096_42471098dup | GRCh37 |
| NC_000019.8:g.47162936_47162938dup | NCBI36 |
| NG_008015.1:g.32290_32292dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.3077_3079dup | ENSP00000444688.1:p.Ter1027TyrfsTer2 | |
| ENST00000644613.1:c.3013+308_3013+310dup | ENSP00000494711.1:n.3013+308_3013+310dup | |
| ENST00000648268.1:c.3038_3040dup MANE Select | ENSP00000498113.1:p.Ter1014TyrfsTer2 | |
| ENST00000302102.9:c.3038_3040dup | ENSP00000302397.5:p.Ter1014TyrfsTer2 | |
| ENST00000441343.5:c.3321_3323dup | ENSP00000411503.1:p.Leu1108_Thr1109insLeu | |
| ENST00000543770.5:c.3071_3073dup | ENSP00000437577.1:p.Ter1025TyrfsTer2 | |
| ENST00000545399.5:c.3077_3079dup | ENSP00000444688.1:p.Ter1027TyrfsTer2 | |
| ENST00000602133.5:c.2948_2950dup | ENSP00000471581.1:p.Ter984TyrfsTer2 | |
| NM_001256213.1:c.3071_3073dup | NP_001243142.1:p.Ter1025TyrfsTer2 | |
| NM_001256214.1:c.3077_3079dup | NP_001243143.1:p.Ter1027TyrfsTer2 | |
| NM_152296.4:c.3038_3040dup | NP_689509.1:p.Ter1014TyrfsTer2 | |
| XM_011526991.1:c.2948_2950dup | XP_011525293.1:p.Ter984TyrfsTer2 | |
| NM_152296.5:c.3038_3040dup MANE Select | NP_689509.1:p.Ter1014TyrfsTer2 | |
| NM_001256214.2:c.3077_3079dup | NP_001243143.1:p.Ter1027TyrfsTer2 | |
| NM_001256213.2:c.3071_3073dup | NP_001243142.1:p.Ter1025TyrfsTer2 |