Linked Data
dbSNP Id:
rs397994464
gnomAD v3:
4-89725318-T-TAAAAAAAAA
gnomAD v4:
4-89725318-T-TAAAAAAAAA
MyVariant Identifiers:
chr4:g.90646469_90646470insAAAAAAAAA (hg19)
chr4:g.89725318_89725319insAAAAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89725327_89725335dup , CM000666.2:g.89725327_89725335dup | GRCh38 |
| NC_000004.11:g.90646478_90646486dup , CM000666.1:g.90646478_90646486dup | GRCh37 |
| NC_000004.10:g.90865501_90865509dup | NCBI36 |
| NG_011851.1:g.117970_117978dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394991.8:c.*1301_*1309dup MANE Select | ENSP00000378442.4:n.*1301_*1309dup | |
| ENST00000673718.1:c.*1301_*1309dup | ENSP00000500990.1:n.*1301_*1309dup | |
| ENST00000673766.1:n.1979_1987dup | ||
| ENST00000673902.1:c.390+3867_390+3875dup | ENSP00000501102.1:n.390+3867_390+3875dup | |
| ENST00000336904.7:c.*1301_*1309dup | ENSP00000338345.3:n.*1301_*1309dup | |
| ENST00000394989.6:c.*1301_*1309dup | ENSP00000378440.2:n.*1301_*1309dup | |
| ENST00000420646.6:c.*1301_*1309dup | ENSP00000396241.2:n.*1301_*1309dup | |
| ENST00000618500.4:c.*1301_*1309dup | ENSP00000484044.1:n.*1301_*1309dup | |
| NM_000345.3:c.*1301_*1309dup | NP_000336.1:n.*1301_*1309dup | |
| NM_001146054.1:c.*1301_*1309dup | NP_001139526.1:n.*1301_*1309dup | |
| NM_001146055.1:c.*1301_*1309dup | NP_001139527.1:n.*1301_*1309dup | |
| NM_007308.2:c.*1301_*1309dup | NP_009292.1:n.*1301_*1309dup | |
| NM_000345.4:c.*1301_*1309dup MANE Select | NP_000336.1:n.*1301_*1309dup | |
| NM_001146054.2:c.*1301_*1309dup | NP_001139526.1:n.*1301_*1309dup | |
| NM_001146055.2:c.*1301_*1309dup | NP_001139527.1:n.*1301_*1309dup | |
| NM_001375285.1:c.*1301_*1309dup | NP_001362214.1:n.*1301_*1309dup | |
| NM_001375286.1:c.*1301_*1309dup | NP_001362215.1:n.*1301_*1309dup | |
| NM_001375287.1:c.*1301_*1309dup | NP_001362216.1:n.*1301_*1309dup | |
| NM_001375288.1:c.*1301_*1309dup | NP_001362217.1:n.*1301_*1309dup | |
| NM_001375290.1:c.*1301_*1309dup | NP_001362219.1:n.*1301_*1309dup | |
| NR_164674.1:n.1277-13_1277-5dup | ||
| NR_164675.1:n.1424-13_1424-5dup | ||
| NR_164676.1:n.2022_2030dup | ||
| NM_007308.3:c.*1301_*1309dup | NP_009292.1:n.*1301_*1309dup |