Linked Data
ClinVar Variation Id:
46231
dbSNP Id:
rs397517412
MyVariant Identifiers:
chr19:g.4117432_4117433delinsAC (hg19)
chr19:g.4117434_4117435delinsAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117434_4117435delinsAC , CM000681.2:g.4117434_4117435delinsAC | GRCh38 |
| NC_000019.9:g.4117432_4117433delinsAC , CM000681.1:g.4117432_4117433delinsAC | GRCh37 |
| NC_000019.8:g.4068432_4068433delinsAC | NCBI36 |
| NG_007996.1:g.11694_11695delinsGT , LRG_750:g.11694_11695delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.726_727delinsGT | ||
| ENST00000687128.1:n.726_727delinsGT | ||
| ENST00000262948.10:c.287_288delinsGT MANE Select | ENSP00000262948.4:p.Leu96Arg | |
| ENST00000262948.9:c.287_288delinsGT | ENSP00000262948.3:p.Leu96Arg | |
| ENST00000394867.8:c.-5_-4delinsGT | ENSP00000378336.1:n.-5_-4delinsGT | |
| ENST00000599345.1:n.484_485delinsGT | ||
| NM_030662.3:c.287_288delinsGT , LRG_750t1:c.287_288delinsGT | NP_109587.1:p.Leu96Arg | |
| XM_006722799.2:c.287_288delinsGT | XP_006722862.1:p.Leu96Arg | |
| XM_017026989.1:c.287_288delinsGT | XP_016882478.1:p.Leu96Arg | |
| XM_017026990.1:c.287_288delinsGT | XP_016882479.1:p.Leu96Arg | |
| XM_017026991.1:c.287_288delinsGT | XP_016882480.1:p.Leu96Arg | |
| NM_030662.4:c.287_288delinsGT MANE Select | NP_109587.1:p.Leu96Arg |