Linked Data
dbSNP Id:
rs1561814243
gnomAD v2:
5-177031406-C-CGG
MyVariant Identifiers:
chr5:g.177031406_177031407insGG (hg19)
chr5:g.177604405_177604406insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604405_177604406insGG , CM000667.2:g.177604405_177604406insGG | GRCh38 |
| NC_000005.9:g.177031406_177031407insGG , CM000667.1:g.177031406_177031407insGG | GRCh37 |
| NC_000005.8:g.176964012_176964013insGG | NCBI36 |
| NG_015977.1:g.9288_9289insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.277_278insGG MANE Select | ENSP00000029410.5:p.His93ArgfsTer28 | |
| ENST00000029410.9:c.277_278insGG | ENSP00000029410.5:p.His93ArgfsTer28 | |
| ENST00000502420.1:n.256_257insGG | ||
| ENST00000505433.5:c.277_278insGG | ENSP00000425591.1:p.His93ArgfsTer28 | |
| ENST00000505468.1:c.-66_-65insGG | ENSP00000420886.1:n.-66_-65insGG | |
| ENST00000507061.1:c.94_95insGG | ENSP00000423868.1:p.His32ArgfsTer28 | |
| ENST00000510761.1:c.-66_-65insGG | ENSP00000423438.1:n.-66_-65insGG | |
| NM_007255.2:c.277_278insGG | NP_009186.1:p.His93ArgfsTer28 | |
| XM_005265805.2:c.-66_-65insGG | XP_005265862.1:n.-66_-65insGG | |
| XM_006714816.2:c.-223_-222insGG | XP_006714879.1:n.-223_-222insGG | |
| XM_011534421.1:c.-66_-65insGG | XP_011532723.1:n.-66_-65insGG | |
| XM_006714816.4:c.-223_-222insGG | XP_006714879.1:n.-223_-222insGG | |
| XM_017008999.2:c.-66_-65insGG | XP_016864488.1:n.-66_-65insGG | |
| NM_007255.3:c.277_278insGG MANE Select | NP_009186.1:p.His93ArgfsTer28 |