Linked Data
ClinVar Variation Id:
1997632
ClinVar RCV Id:
RCV002791874
dbSNP Id:
rs139324199
ExAC:
10:50863208 GACA / G
gnomAD v2:
10-50863208-GACA-G
gnomAD v3:
10-49655162-GACA-G
gnomAD v4:
10-49655162-GACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49655166_49655168del , CM000672.2:g.49655166_49655168del | GRCh38 |
| NC_000010.10:g.50863212_50863214del , CM000672.1:g.50863212_50863214del | GRCh37 |
| NC_000010.9:g.50533218_50533220del | NCBI36 |
| NG_011797.1:g.51072_51074del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.1706_1708del MANE Select | ENSP00000337103.2:p.Asn569del | |
| ENST00000638282.1:c.*543_*545del | ENSP00000492646.1:n.*543_*545del | |
| ENST00000638683.1:n.343_345del | ||
| ENST00000640822.1:c.569_571del | ENSP00000491328.1:p.Asn190del | |
| ENST00000337653.6:c.1706_1708del | ENSP00000337103.2:p.Asn569del | |
| ENST00000339797.5:c.1352_1354del | ENSP00000343486.1:p.Asn451del | |
| ENST00000351556.7:c.1352_1354del | ENSP00000345878.3:p.Asn451del | |
| ENST00000395559.6:c.1352_1354del | ENSP00000378926.2:p.Asn451del | |
| ENST00000395562.2:c.1460_1462del | ENSP00000378929.2:p.Asn487del | |
| ENST00000466590.6:c.*1437_*1439del | ENSP00000473443.1:n.*1437_*1439del | |
| NM_001142929.1:c.1352_1354del | NP_001136401.1:p.Asn451del | |
| NM_001142933.1:c.1460_1462del | NP_001136405.1:p.Asn487del | |
| NM_001142934.1:c.1352_1354del | NP_001136406.1:p.Asn451del | |
| NM_020549.4:c.1706_1708del | NP_065574.3:p.Asn569del | |
| NM_020984.3:c.1352_1354del | NP_066264.3:p.Asn451del | |
| NM_020985.3:c.1352_1354del | NP_066265.3:p.Asn451del | |
| NM_020986.3:c.1352_1354del | NP_066266.3:p.Asn451del | |
| NM_001142929.2:c.1352_1354del | NP_001136401.2:p.Asn451del | |
| NM_001142933.2:c.1460_1462del | NP_001136405.2:p.Asn487del | |
| NM_001142934.2:c.1352_1354del | NP_001136406.2:p.Asn451del | |
| NM_020549.5:c.1706_1708del MANE Select | NP_065574.4:p.Asn569del | |
| NM_020984.4:c.1352_1354del | NP_066264.4:p.Asn451del | |
| NM_020985.4:c.1352_1354del | NP_066265.4:p.Asn451del | |
| NM_020986.4:c.1352_1354del | NP_066266.4:p.Asn451del |