Linked Data
dbSNP Id:
rs1416292645
gnomAD v2:
20-18506989-T-TCTAACATG
gnomAD v3:
20-18526345-T-TCTAACATG
gnomAD v4:
20-18526345-T-TCTAACATG
MyVariant Identifiers:
chr20:g.18506989_18506990insCTAACATG (hg19)
chr20:g.18526345_18526346insCTAACATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18526348_18526355dup , CM000682.2:g.18526348_18526355dup | GRCh38 |
| NC_000020.10:g.18506992_18506999dup , CM000682.1:g.18506992_18506999dup | GRCh37 |
| NC_000020.9:g.18454992_18454999dup | NCBI36 |
| NG_016281.1:g.23805_23812dup | |
| NG_016281.2:g.23867_23874dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336714.8:c.835-25_835-18dup | ENSP00000338844.3:n.835-25_835-18dup | |
| ENST00000377465.6:c.835-25_835-18dup | ENSP00000366685.1:n.835-25_835-18dup | |
| ENST00000450074.6:c.835-25_835-18dup | ENSP00000403971.1:n.835-25_835-18dup | |
| ENST00000643747.1:c.781-25_781-18dup | ENSP00000496460.1:n.781-25_781-18dup | |
| ENST00000650089.1:c.835-25_835-18dup MANE Select | ENSP00000497473.1:n.835-25_835-18dup | |
| ENST00000262544.6:c.835-25_835-18dup | ENSP00000262544.2:n.835-25_835-18dup | |
| ENST00000336714.7:c.835-25_835-18dup | ENSP00000338844.3:n.835-25_835-18dup | |
| ENST00000377465.5:c.835-25_835-18dup | ENSP00000366685.1:n.835-25_835-18dup | |
| ENST00000377475.7:c.835-25_835-18dup | ENSP00000366695.3:n.835-25_835-18dup | |
| ENST00000450074.5:c.835-25_835-18dup | ENSP00000403971.1:n.835-25_835-18dup | |
| NM_001172745.1:c.835-25_835-18dup | NP_001166216.1:n.835-25_835-18dup | |
| NM_001172746.1:c.781-25_781-18dup | NP_001166217.1:n.781-25_781-18dup | |
| NM_006363.4:c.835-25_835-18dup | NP_006354.2:n.835-25_835-18dup | |
| NM_032985.4:c.835-25_835-18dup | NP_116780.1:n.835-25_835-18dup | |
| NM_032986.3:c.835-25_835-18dup | NP_116781.1:n.835-25_835-18dup | |
| NM_001172745.2:c.835-25_835-18dup | NP_001166216.1:n.835-25_835-18dup | |
| NM_001172746.2:c.781-25_781-18dup | NP_001166217.1:n.781-25_781-18dup | |
| NM_006363.6:c.835-25_835-18dup MANE Select | NP_006354.2:n.835-25_835-18dup | |
| NM_032985.5:c.835-25_835-18dup | NP_116780.1:n.835-25_835-18dup | |
| NM_032986.4:c.835-25_835-18dup | NP_116781.1:n.835-25_835-18dup | |
| XM_017027593.1:c.835-25_835-18dup | XP_016883082.1:n.835-25_835-18dup | |
| NM_001172745.3:c.835-25_835-18dup | NP_001166216.1:n.835-25_835-18dup | |
| NM_001172746.3:c.781-25_781-18dup | NP_001166217.1:n.781-25_781-18dup | |
| NM_032985.6:c.835-25_835-18dup | NP_116780.1:n.835-25_835-18dup | |
| NM_032986.5:c.835-25_835-18dup | NP_116781.1:n.835-25_835-18dup |