Linked Data
ClinVar Variation Id:
2722716
ClinVar RCV Id:
RCV003559034
dbSNP Id:
rs1293081480
gnomAD v4:
6-31960219-GAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31960222_31960223del , CM000668.2:g.31960222_31960223del | GRCh38 |
| NC_000006.11:g.31927999_31928000del , CM000668.1:g.31927999_31928000del | GRCh37 |
| NC_000006.10:g.32035978_32035979del | NCBI36 |
| NG_032652.1:g.6419_6420del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.239_240del | ENSP00000419905.1:p.Lys80MetfsTer? | |
| ENST00000483553.6:c.239_240del | ENSP00000420332.2:p.Lys80MetfsTer? | |
| ENST00000485349.6:n.280_281del | ||
| ENST00000491994.2:c.239_240del | ENSP00000417586.2:p.Lys80MetfsTer? | |
| ENST00000494058.6:n.296_297del | ||
| ENST00000697831.1:c.239_240del | ENSP00000513453.1:p.Lys80MetfsTer? | |
| ENST00000697832.1:n.315_316del | ||
| ENST00000697833.1:c.239_240del | ENSP00000513454.1:p.Lys80MetfsTer? | |
| ENST00000697834.1:n.291_292del | ||
| ENST00000697835.1:c.258_259del | ENSP00000513455.1:p.Lys86AsnfsTer? | |
| ENST00000697836.1:n.275_276del | ||
| ENST00000697837.1:c.239_240del | ENSP00000513456.1:p.Lys80MetfsTer? | |
| ENST00000697838.1:c.104_105del | ENSP00000513457.1:p.Lys35MetfsTer? | |
| ENST00000697839.1:n.261_262del | ||
| ENST00000697840.1:c.239_240del | ENSP00000513458.1:p.Lys80MetfsTer? | |
| ENST00000697841.1:n.250_251del | ||
| ENST00000697842.1:n.239_240del | ||
| ENST00000375394.7:c.239_240del MANE Select | ENSP00000364543.2:p.Lys80MetfsTer? | |
| ENST00000375394.6:c.239_240del | ENSP00000364543.2:p.Lys80MetfsTer? | |
| ENST00000461073.5:c.239_240del | ENSP00000419905.1:p.Lys80MetfsTer? | |
| ENST00000465703.5:n.291_292del | ||
| ENST00000474839.5:c.127-819_127-818del | ENSP00000420470.1:n.127-819_127-818del | |
| ENST00000488648.5:n.315_316del | ||
| ENST00000628157.1:c.127-819_127-818del | ENSP00000485707.1:n.127-819_127-818del | |
| NM_006929.4:c.239_240del | NP_008860.4:p.Lys80MetfsTer? | |
| XM_006715168.2:c.239_240del | XP_006715231.1:p.Lys80MetfsTer? | |
| XM_011514815.1:c.239_240del | XP_011513117.1:p.Lys80MetfsTer? | |
| XR_926301.1:n.327_328del | ||
| XM_011514815.3:c.239_240del | XP_011513117.1:p.Lys80MetfsTer? | |
| XR_001743586.2:n.275_276del | ||
| XR_926301.3:n.275_276del | ||
| NM_006929.5:c.239_240del MANE Select | NP_008860.4:p.Lys80MetfsTer? |