MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002108 (SAS)
Genomes Max Group AF
0.0000117 (NFE)
Exomes Max Group AF
0.00002198 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202555245_202555248del , CM000664.2:g.202555245_202555248del | GRCh38 |
| NC_000002.11:g.203419968_203419971del , CM000664.1:g.203419968_203419971del | GRCh37 |
| NC_000002.10:g.203128213_203128216del | NCBI36 |
| NG_009363.1:g.183919_183922del , LRG_712:g.183919_183922del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1587-7_1587-4del MANE Select | ENSP00000363708.4:n.1587-7_1587-4del | |
| ENST00000638587.1:c.1518-7_1518-4del | ENSP00000491062.1:n.1518-7_1518-4del | |
| ENST00000374574.2:c.1586+2357_1586+2360del | ENSP00000363702.2:n.1586+2357_1586+2360del | |
| ENST00000374580.8:c.1587-7_1587-4del | ENSP00000363708.4:n.1587-7_1587-4del | |
| NM_001204.6:c.1587-7_1587-4del , LRG_712t1:c.1587-7_1587-4del | NP_001195.2:n.1587-7_1587-4del | |
| XM_011511687.1:c.1587-7_1587-4del | XP_011509989.1:n.1587-7_1587-4del | |
| XM_011511688.1:c.1586+2357_1586+2360del | XP_011509990.1:n.1586+2357_1586+2360del | |
| NM_001204.7:c.1587-7_1587-4del MANE Select | NP_001195.2:n.1587-7_1587-4del |