Linked Data
gnomAD v2:
11-6413587-G-GTTTTT
gnomAD v3:
11-6392357-G-GTTTTT
gnomAD v4:
11-6392357-G-GTTTTT
MyVariant Identifiers:
chr11:g.6413587_6413588insTTTTT (hg19)
chr11:g.6392357_6392358insTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392358_6392362dup , CM000673.2:g.6392358_6392362dup | GRCh38 |
| NC_000011.9:g.6413588_6413592dup , CM000673.1:g.6413588_6413592dup | GRCh37 |
| NC_000011.8:g.6370164_6370168dup | NCBI36 |
| NG_011780.1:g.6934_6938dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1091+202_1091+206dup MANE Select | ENSP00000340409.4:n.1091+202_1091+206dup | |
| ENST00000342245.8:c.1091+202_1091+206dup | ENSP00000340409.4:n.1091+202_1091+206dup | |
| ENST00000526280.1:c.320+162_320+166dup | ||
| ENST00000527275.5:c.1088+202_1088+206dup | ENSP00000435350.1:n.1088+202_1088+206dup | |
| ENST00000531303.5:c.438+855_439-854dup | ENSP00000432625.1:n.438+855_439-854dup | |
| ENST00000533123.5:c.1091+202_1091+206dup | ENSP00000435950.1:n.1091+202_1091+206dup | |
| ENST00000534405.5:c.1131+162_1131+166dup | ENSP00000434353.1:n.1131+162_1131+166dup | |
| NM_000543.4:c.1091+202_1091+206dup | NP_000534.3:n.1091+202_1091+206dup | |
| NM_001007593.2:c.1088+202_1088+206dup | NP_001007594.2:n.1088+202_1088+206dup | |
| XM_005253075.3:c.1091+202_1091+206dup | XP_005253132.1:n.1091+202_1091+206dup | |
| XM_011520303.1:c.1131+162_1131+166dup | XP_011518605.1:n.1131+162_1131+166dup | |
| XM_011520304.1:c.1131+162_1131+166dup | XP_011518606.1:n.1131+162_1131+166dup | |
| XR_930886.1:n.1429+162_1429+166dup | ||
| NM_001318087.1:c.1091+202_1091+206dup | NP_001305016.1:n.1091+202_1091+206dup | |
| NM_001318088.1:c.170+162_170+166dup | NP_001305017.1:n.170+162_170+166dup | |
| NM_001365135.1:c.1131+162_1131+166dup | NP_001352064.1:n.1131+162_1131+166dup | |
| NR_027400.2:n.1276+202_1276+206dup | ||
| NR_134502.1:n.623+855_624-854dup | ||
| XM_011520304.2:c.1131+162_1131+166dup | XP_011518606.1:n.1131+162_1131+166dup | |
| XR_001747940.2:n.1256+162_1256+166dup | ||
| XR_002957158.1:n.1256+162_1256+166dup | ||
| NM_000543.5:c.1091+202_1091+206dup MANE Select | NP_000534.3:n.1091+202_1091+206dup | |
| NM_001007593.3:c.1088+202_1088+206dup | NP_001007594.2:n.1088+202_1088+206dup | |
| NM_001318087.2:c.1091+202_1091+206dup | NP_001305016.1:n.1091+202_1091+206dup | |
| NM_001318088.2:c.170+162_170+166dup | NP_001305017.1:n.170+162_170+166dup | |
| NM_001365135.2:c.1131+162_1131+166dup | NP_001352064.1:n.1131+162_1131+166dup | |
| NR_027400.3:n.1216+202_1216+206dup | ||
| NR_134502.2:n.563+855_564-854dup |