Linked Data
ClinVar Variation Id:
561451
ClinVar RCV Id:
RCV000680747
dbSNP Id:
rs151175043
gnomAD v2:
19-4094635-G-GC
gnomAD v3:
19-4094637-G-GC
gnomAD v4:
19-4094637-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094637_4094638insC , CM000681.2:g.4094637_4094638insC | GRCh38 |
| NC_000019.9:g.4094635_4094636insC , CM000681.1:g.4094635_4094636insC | GRCh37 |
| NC_000019.8:g.4045635_4045636insC | NCBI36 |
| NG_007996.1:g.34491_34492insG , LRG_750:g.34491_34492insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1486-140_1486-139insG | ||
| ENST00000688002.1:n.3198-140_3198-139insG | ||
| ENST00000688751.1:n.183-140_183-139insG | ||
| ENST00000689792.1:n.951-140_951-139insG | ||
| ENST00000262948.10:c.1047-140_1047-139insG MANE Select | ENSP00000262948.4:n.1047-140_1047-139insG | |
| ENST00000262948.9:c.1047-140_1047-139insG | ENSP00000262948.3:n.1047-140_1047-139insG | |
| ENST00000394867.8:c.756-140_756-139insG | ENSP00000378336.1:n.756-140_756-139insG | |
| ENST00000597263.5:n.232-140_232-139insG | ||
| ENST00000599021.1:c.157-140_157-139insG | ||
| ENST00000600584.5:n.2356_2357insG | ||
| ENST00000601786.5:n.1348-140_1348-139insG | ||
| NM_030662.3:c.1047-140_1047-139insG , LRG_750t1:c.1047-140_1047-139insG | NP_109587.1:n.1047-140_1047-139insG | |
| XM_006722799.2:c.768-140_768-139insG | XP_006722862.1:n.768-140_768-139insG | |
| XM_011528133.1:c.477-140_477-139insG | XP_011526435.1:n.477-140_477-139insG | |
| XM_017026989.1:c.1455_1456insG | XP_016882478.1:p.Leu486AlafsTer? | |
| XM_017026990.1:c.1176_1177insG | XP_016882479.1:p.Leu393AlafsTer? | |
| NM_030662.4:c.1047-140_1047-139insG MANE Select | NP_109587.1:n.1047-140_1047-139insG |