Linked Data
dbSNP Id:
rs749688747
ExAC:
6:139694481 T / TGTTGCC
gnomAD v2:
6-139694481-T-TGTTGCC
gnomAD v3:
6-139373344-T-TGTTGCC
gnomAD v4:
6-139373344-T-TGTTGCC
MyVariant Identifiers:
chr6:g.139694481_139694482insGTTGCC (hg19)
chr6:g.139373344_139373345insGTTGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373346_139373351dup , CM000668.2:g.139373346_139373351dup | GRCh38 |
| NC_000006.11:g.139694483_139694488dup , CM000668.1:g.139694483_139694488dup | GRCh37 |
| NC_000006.10:g.139736176_139736181dup | NCBI36 |
| NG_016169.1:g.6299_6304dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.595_600dup MANE Select | ENSP00000356623.2:p.Asn200_Met201insGlyAsn | |
| ENST00000367651.3:c.595_600dup | ENSP00000356623.2:p.Asn200_Met201insGlyAsn | |
| ENST00000536159.2:c.595_600dup | ENSP00000442831.1:p.Asn200_Met201insGlyAsn | |
| ENST00000537332.2:c.610_615dup | ENSP00000444198.2:p.Asn205_Met206insGlyAsn | |
| ENST00000618718.1:c.477-53_477-48dup | ENSP00000479918.1:n.477-53_477-48dup | |
| NM_001168388.2:c.595_600dup | NP_001161860.1:p.Asn200_Met201insGlyAsn | |
| NM_001168389.2:c.610_615dup | NP_001161861.2:p.Asn205_Met206insGlyAsn | |
| NM_006079.4:c.595_600dup | NP_006070.2:p.Asn200_Met201insGlyAsn | |
| NM_006079.5:c.595_600dup MANE Select | NP_006070.2:p.Asn200_Met201insGlyAsn | |
| NM_001168388.3:c.595_600dup | NP_001161860.1:p.Asn200_Met201insGlyAsn | |
| NM_001168389.3:c.610_615dup | NP_001161861.2:p.Asn205_Met206insGlyAsn |