gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000692 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000534 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496766del , CM000669.2:g.92496766del | GRCh38 |
| NC_000007.13:g.92126080del , CM000669.1:g.92126080del | GRCh37 |
| NC_000007.12:g.91964016del | NCBI36 |
| NG_008341.1:g.36766del | |
| NG_008341.2:g.36766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2730del MANE Select | ENSP00000248633.4:p.Leu910PhefsTer? | |
| ENST00000248633.8:c.2730del | ENSP00000248633.4:p.Leu910PhefsTer? | |
| ENST00000428214.5:c.2559del | ENSP00000394413.1:p.Leu853PhefsTer? | |
| ENST00000438045.5:c.1764del | ENSP00000410438.1:p.Leu588PhefsTer? | |
| ENST00000484913.5:n.2769del | ||
| ENST00000496420.5:n.2622del | ||
| NM_000466.2:c.2730del | NP_000457.1:p.Leu910PhefsTer? | |
| NM_001282677.1:c.2559del | NP_001269606.1:p.Leu853PhefsTer? | |
| NM_001282678.1:c.2106del | NP_001269607.1:p.Leu702PhefsTer? | |
| XM_005250433.3:c.981del | XP_005250490.1:p.Leu327PhefsTer? | |
| XR_242246.3:n.2826del | ||
| XM_017012319.2:c.981del | XP_016867808.1:p.Leu327PhefsTer? | |
| XR_001744808.2:n.1757del | ||
| XR_242246.5:n.2777del | ||
| NM_000466.3:c.2730del MANE Select | NP_000457.1:p.Leu910PhefsTer? | |
| NM_001282677.2:c.2559del | NP_001269606.1:p.Leu853PhefsTer? | |
| NM_001282678.2:c.2106del | NP_001269607.1:p.Leu702PhefsTer? |