Linked Data
ClinVar Variation Id:
1046681
ClinVar RCV Id:
RCV001351273
dbSNP Id:
rs751990928
gnomAD v2:
22-17566031-GGCTGCTCCT-G
gnomAD v4:
22-17085141-GGCTGCTCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085152_17085160del , CM000684.2:g.17085152_17085160del | GRCh38 |
| NC_000022.10:g.17566042_17566050del , CM000684.1:g.17566042_17566050del | GRCh37 |
| NC_000022.9:g.15946042_15946050del | NCBI36 |
| NG_028257.1:g.5192_5200del , LRG_355:g.5192_5200del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.61_69del | ENSP00000479970.1:p.Leu21_Leu23del | |
| ENST00000694948.1:n.159_167del | ||
| ENST00000694949.1:n.156_164del | ||
| ENST00000694950.1:c.141_149del | ||
| ENST00000319363.11:c.61_69del MANE Select | ENSP00000320936.6:p.Leu21_Leu23del | |
| ENST00000319363.10:c.61_69del | ENSP00000320936.6:p.Leu21_Leu23del | |
| ENST00000459971.1:n.96_104del | ||
| ENST00000477874.1:n.199_207del | ||
| ENST00000612619.1:c.61_69del | ENSP00000479970.1:p.Leu21_Leu23del | |
| NM_001289905.1:c.61_69del | NP_001276834.1:p.Leu21_Leu23del | |
| NM_014339.6:c.61_69del , LRG_355t1:c.61_69del | NP_055154.3:p.Leu21_Leu23del | |
| NM_014339.7:c.61_69del MANE Select | NP_055154.3:p.Leu21_Leu23del | |
| NM_001289905.2:c.61_69del | NP_001276834.1:p.Leu21_Leu23del |