UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs2034075982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89280242_89280243insCAGGAAACTACCGAGCCACCACATTTCTCC , CM000678.2:g.89280242_89280243insCAGGAAACTACCGAGCCACCACATTTCTCC | GRCh38 |
| NC_000016.9:g.89346650_89346651insCAGGAAACTACCGAGCCACCACATTTCTCC , CM000678.1:g.89346650_89346651insCAGGAAACTACCGAGCCACCACATTTCTCC | GRCh37 |
| NC_000016.8:g.87874151_87874152insCAGGAAACTACCGAGCCACCACATTTCTCC | NCBI36 |
| NG_032003.1:g.215319_215320insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | |
| NG_032003.2:g.215319_215320insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301030.10:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG MANE Select | ENSP00000301030.4:p.Asn2100delinsLysGluLysCysGlyGlySerValValS... | |
| ENST00000330736.10:c.*6102_*6103insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | ENSP00000330815.5:n.*6102_*6103insGGAGAAATGTGGTGGCTCGGTAGTTTC... | |
| ENST00000378330.7:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | ENSP00000367581.2:p.Asn2100delinsLysGluLysCysGlyGlySerValValS... | |
| ENST00000642600.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | ENSP00000495226.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValS... | |
| ENST00000644285.1:c.745-5052_745-5051insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | ENSP00000496476.1:n.745-5052_745-5051insGGAGAAATGTGGTGGCTCGGT... | |
| ENST00000301030.8:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | ENSP00000301030.4:p.Asn2100delinsLysGluLysCysGlyGlySerValValS... | |
| ENST00000330736.9:c.*6102_*6103insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | ENSP00000330815.5:n.*6102_*6103insGGAGAAATGTGGTGGCTCGGTAGTTTC... | |
| ENST00000378330.6:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | ENSP00000367581.2:p.Asn2100delinsLysGluLysCysGlyGlySerValValS... | |
| ENST00000562194.1:c.152-5052_152-5051insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | ||
| NM_001256182.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | NP_001243111.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| NM_001256183.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | NP_001243112.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| NM_013275.5:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | NP_037407.4:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerCys | |
| XM_006721181.1:c.6197_6198insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_006721244.1:p.Asn2066delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_006721184.2:c.6002_6003insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_006721247.1:p.Asn2001delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523051.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521353.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523052.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521354.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523053.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521355.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523054.1:c.6197_6198insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521356.1:p.Asn2066delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523055.1:c.6197_6198insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521357.1:p.Asn2066delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523056.1:c.6170_6171insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521358.1:p.Asn2057delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523057.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521359.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523051.3:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521353.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523053.2:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521355.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523054.2:c.6197_6198insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521356.1:p.Asn2066delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523055.2:c.6197_6198insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521357.1:p.Asn2066delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523056.2:c.6170_6171insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521358.1:p.Asn2057delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_011523057.2:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_011521359.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_017023182.2:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_016878671.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_017023183.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_016878672.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_017023184.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_016878673.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_017023185.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_016878674.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_017023186.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_016878675.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_017023187.1:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_016878676.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| XM_024450244.1:c.6197_6198insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | XP_024306012.1:p.Asn2066delinsLysGluLysCysGlyGlySerValValSerC... | |
| NM_013275.6:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG MANE Select | NP_037407.4:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerCys | |
| NM_001256182.2:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | NP_001243111.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... | |
| NM_001256183.2:c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG | NP_001243112.1:p.Asn2100delinsLysGluLysCysGlyGlySerValValSerC... |