Linked Data
dbSNP Id:
rs1563398142
gnomAD v2:
8-37823676-C-CGTTG
gnomAD v4:
8-37966158-C-CGTTG
MyVariant Identifiers:
chr8:g.37823676_37823677insGTTG (hg19)
chr8:g.37966158_37966159insGTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966159_37966160insTTGG , CM000670.2:g.37966159_37966160insTTGG | GRCh38 |
| NC_000008.10:g.37823677_37823678insTTGG , CM000670.1:g.37823677_37823678insTTGG | GRCh37 |
| NC_000008.9:g.37942834_37942835insTTGG | NCBI36 |
| NG_011936.1:g.5508_5509insCAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.311_312insCAAC MANE Select | ENSP00000343782.3:p.Leu105AsnfsTer? | |
| ENST00000520341.2:n.439_440insCAAC | ||
| ENST00000345060.4:c.311_312insCAAC | ENSP00000343782.3:p.Leu105AsnfsTer? | |
| ENST00000614635.1:c.311_312insCAAC | ENSP00000480325.1:p.Leu105AsnfsTer? | |
| NM_000025.2:c.311_312insCAAC | NP_000016.1:p.Leu105AsnfsTer? | |
| NM_000025.3:c.311_312insCAAC MANE Select | NP_000016.1:p.Leu105AsnfsTer? |