Linked Data
dbSNP Id:
rs1200100110
gnomAD v2:
17-48244733-C-CGGAGAA
MyVariant Identifiers:
chr17:g.48244733_48244734insGGAGAA (hg19)
chr17:g.50167372_50167373insGGAGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50167372_50167373insGGAGAA , CM000679.2:g.50167372_50167373insGGAGAA | GRCh38 |
| NC_000017.10:g.48244733_48244734insGGAGAA , CM000679.1:g.48244733_48244734insGGAGAA | GRCh37 |
| NC_000017.9:g.45599732_45599733insGGAGAA | NCBI36 |
| NG_008889.1:g.6368_6369insGGAGAA , LRG_203:g.6368_6369insGGAGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.42_43insGGAGAA | ENSP00000422030.2:p.Leu14_Leu15insGlyGlu | |
| ENST00000511303.6:n.38-575_38-574insGGAGAA | ||
| ENST00000512526.2:c.42_43insGGAGAA | ENSP00000426606.2:p.Leu14_Leu15insGlyGlu | |
| ENST00000682109.1:c.38-210_38-209insGGAGAA | ENSP00000508041.1:n.38-210_38-209insGGAGAA | |
| ENST00000683294.1:c.42_43insGGAGAA | ENSP00000508134.1:p.Leu14_Leu15insGlyGlu | |
| ENST00000262018.8:c.42_43insGGAGAA MANE Select | ENSP00000262018.3:p.Leu14_Leu15insGlyGlu | |
| ENST00000262018.7:c.42_43insGGAGAA | ENSP00000262018.3:p.Leu14_Leu15insGlyGlu | |
| ENST00000344627.10:c.42_43insGGAGAA | ENSP00000345522.6:p.Leu14_Leu15insGlyGlu | |
| ENST00000502555.5:c.42_43insGGAGAA | ENSP00000422817.1:p.Leu14_Leu15insGlyGlu | |
| ENST00000511303.5:c.34-575_34-574insGGAGAA | ENSP00000426104.1:n.34-575_34-574insGGAGAA | |
| ENST00000513821.5:c.42_43insGGAGAA | ENSP00000426571.1:p.Leu14_Leu15insGlyGlu | |
| ENST00000513942.5:n.104-575_104-574insGGAGAA | ||
| ENST00000514934.1:c.101_102insGGAGAA | ENSP00000423168.1:p.Ser34_Trp35insGluAsn | |
| NM_000023.2:c.42_43insGGAGAA , LRG_203t1:c.42_43insGGAGAA | NP_000014.1:p.Leu14_Leu15insGlyGlu | |
| NM_001135697.1:c.42_43insGGAGAA | NP_001129169.1:p.Leu14_Leu15insGlyGlu | |
| XM_011525120.1:c.42_43insGGAGAA | XP_011523422.1:p.Leu14_Leu15insGlyGlu | |
| XM_011525121.1:c.42_43insGGAGAA | XP_011523423.1:p.Leu14_Leu15insGlyGlu | |
| XM_011525122.1:c.42_43insGGAGAA | XP_011523424.1:p.Leu14_Leu15insGlyGlu | |
| XM_011525123.1:c.42_43insGGAGAA | XP_011523425.1:p.Leu14_Leu15insGlyGlu | |
| XM_011525124.1:c.-110_-109insGGAGAA | XP_011523426.1:n.-110_-109insGGAGAA | |
| XR_934517.1:n.108_109insGGAGAA | ||
| NM_000023.3:c.42_43insGGAGAA | NP_000014.1:p.Leu14_Leu15insGlyGlu | |
| NM_001135697.2:c.42_43insGGAGAA | NP_001129169.1:p.Leu14_Leu15insGlyGlu | |
| NR_135553.1:n.98_99insGGAGAA | ||
| XM_011525120.2:c.204_205insGGAGAA | XP_011523422.2:p.Leu68_Leu69insGlyGlu | |
| XM_011525121.2:c.204_205insGGAGAA | XP_011523423.2:p.Leu68_Leu69insGlyGlu | |
| XM_011525122.2:c.204_205insGGAGAA | XP_011523424.2:p.Leu68_Leu69insGlyGlu | |
| XM_011525123.2:c.204_205insGGAGAA | XP_011523425.2:p.Leu68_Leu69insGlyGlu | |
| XM_011525124.2:c.-110_-109insGGAGAA | XP_011523426.1:n.-110_-109insGGAGAA | |
| XM_024450873.1:c.-110_-109insGGAGAA | XP_024306641.1:n.-110_-109insGGAGAA | |
| XR_002958056.1:n.560_561insGGAGAA | ||
| NM_000023.4:c.42_43insGGAGAA MANE Select | NP_000014.1:p.Leu14_Leu15insGlyGlu | |
| NM_001135697.3:c.42_43insGGAGAA | NP_001129169.1:p.Leu14_Leu15insGlyGlu | |
| NR_135553.2:n.78_79insGGAGAA |