Linked Data
dbSNP Id:
rs1372156032
gnomAD v2:
13-20763120-T-TGAATG
gnomAD v4:
13-20188981-T-TGAATG
MyVariant Identifiers:
chr13:g.20763120_20763121insGAATG (hg19)
chr13:g.20188981_20188982insGAATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188981_20188982insGAATG , CM000675.2:g.20188981_20188982insGAATG | GRCh38 |
| NC_000013.10:g.20763120_20763121insGAATG , CM000675.1:g.20763120_20763121insGAATG | GRCh37 |
| NC_000013.9:g.19661120_19661121insGAATG | NCBI36 |
| NG_008358.1:g.8994_8995insCATTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.600_601insCATTC | ENSP00000372295.1:p.Ile201HisfsTer7 | |
| ENST00000382848.5:c.600_601insCATTC MANE Select | ENSP00000372299.4:p.Ile201HisfsTer7 | |
| ENST00000382844.1:c.600_601insCATTC | ENSP00000372295.1:p.Ile201HisfsTer7 | |
| ENST00000382848.4:c.600_601insCATTC | ENSP00000372299.4:p.Ile201HisfsTer7 | |
| NM_004004.5:c.600_601insCATTC | NP_003995.2:p.Ile201HisfsTer7 | |
| XM_011535049.1:c.600_601insCATTC | XP_011533351.1:p.Ile201HisfsTer7 | |
| XM_011535049.2:c.600_601insCATTC | XP_011533351.1:p.Ile201HisfsTer7 | |
| NM_004004.6:c.600_601insCATTC MANE Select | NP_003995.2:p.Ile201HisfsTer7 |