Linked Data
ClinVar Variation Id:
847562
ClinVar RCV Id:
RCV001051138
dbSNP Id:
rs746910960
ExAC:
2:128398551 CACAG / C
gnomAD v2:
2-128398551-CACAG-C
gnomAD v3:
2-127640976-CACAG-C
gnomAD v4:
2-127640976-CACAG-C
COSMIC:
COSM4698064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127640980_127640983del , CM000664.2:g.127640980_127640983del | GRCh38 |
| NC_000002.11:g.128398555_128398558del , CM000664.1:g.128398555_128398558del | GRCh37 |
| NC_000002.10:g.128115025_128115028del | NCBI36 |
| NG_042235.1:g.45807_45810del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355119.9:c.669_672del MANE Select | ENSP00000347240.4:p.Cys224ProfsTer? | |
| ENST00000324938.9:c.741_744del | ENSP00000326888.5:p.Cys248ProfsTer? | |
| ENST00000355119.8:c.669_672del | ENSP00000347240.4:p.Cys224ProfsTer? | |
| ENST00000409254.1:c.213_216del | ENSP00000386907.1:p.Cys72ProfsTer? | |
| ENST00000409286.5:c.213_216del | ENSP00000386252.1:p.Cys72ProfsTer? | |
| ENST00000409455.5:c.654_657del | ENSP00000386383.1:p.Cys219ProfsTer? | |
| ENST00000409754.5:c.213_216del | ENSP00000386345.1:p.Cys72ProfsTer? | |
| ENST00000409808.6:c.654_657del | ENSP00000386637.2:p.Cys219ProfsTer? | |
| ENST00000410011.5:c.654_657del | ENSP00000387002.1:p.Cys219ProfsTer? | |
| ENST00000410038.5:c.213_216del | ENSP00000386570.1:p.Cys72ProfsTer? | |
| ENST00000413578.5:c.62_65del | ENSP00000388611.1:p.Ser21CysfsTer4 | |
| ENST00000426981.5:c.152_155del | ||
| ENST00000466410.5:n.805_808del | ||
| ENST00000469300.6:n.3470_3473del | ||
| ENST00000476932.5:n.1057_1060del | ||
| ENST00000484252.5:n.312_315del | ||
| ENST00000545738.6:c.735_738del | ENSP00000443794.2:p.Cys246ProfsTer? | |
| ENST00000612860.4:c.393_396del | ENSP00000484949.1:p.Cys132ProfsTer? | |
| NM_001136037.2:c.735_738del | NP_001129509.2:p.Cys246ProfsTer? | |
| NM_001161403.1:c.669_672del | NP_001154875.1:p.Cys224ProfsTer? | |
| NM_001161404.1:c.654_657del | NP_001154876.1:p.Cys219ProfsTer? | |
| NM_001256542.1:c.213_216del | NP_001243471.1:p.Cys72ProfsTer? | |
| NM_017980.4:c.741_744del | NP_060450.2:p.Cys248ProfsTer? | |
| XM_005263709.2:c.654_657del | XP_005263766.1:p.Cys219ProfsTer? | |
| XM_005263710.2:c.462_465del | XP_005263767.1:p.Cys155ProfsTer? | |
| XM_006712627.2:c.321_324del | XP_006712690.1:p.Cys108ProfsTer? | |
| XM_011511453.1:c.590_593del | XP_011509755.1:p.Ser197CysfsTer4 | |
| XR_922961.1:n.805_808del | ||
| XM_006712627.4:c.321_324del | XP_006712690.1:p.Cys108ProfsTer? | |
| XM_017004469.1:c.332_335del | XP_016859958.1:p.Ser111CysfsTer4 | |
| XM_024452983.1:c.654_657del | XP_024308751.1:p.Cys219ProfsTer? | |
| XM_024452984.1:c.654_657del | XP_024308752.1:p.Cys219ProfsTer? | |
| XM_024452985.1:c.213_216del | XP_024308753.1:p.Cys72ProfsTer? | |
| XM_024452986.1:c.213_216del | XP_024308754.1:p.Cys72ProfsTer? | |
| XR_922961.2:n.805_808del | ||
| NM_001136037.3:c.735_738del | NP_001129509.2:p.Cys246ProfsTer? | |
| NM_001161403.2:c.669_672del | NP_001154875.1:p.Cys224ProfsTer? | |
| NM_001136037.4:c.735_738del | NP_001129509.2:p.Cys246ProfsTer? | |
| NM_001161403.3:c.669_672del MANE Select | NP_001154875.1:p.Cys224ProfsTer? | |
| NM_001161404.2:c.654_657del | NP_001154876.1:p.Cys219ProfsTer? | |
| NM_001256542.2:c.213_216del | NP_001243471.1:p.Cys72ProfsTer? | |
| NM_017980.5:c.741_744del | NP_060450.2:p.Cys248ProfsTer? |