Linked Data
dbSNP Id:
rs1383852555
gnomAD v2:
12-1889642-G-GATCTT
gnomAD v3:
12-1780476-G-GATCTT
gnomAD v4:
12-1780476-G-GATCTT
MyVariant Identifiers:
chr12:g.1889642_1889643insATCTT (hg19)
chr12:g.1780476_1780477insATCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1780477_1780481dup , CM000674.2:g.1780477_1780481dup | GRCh38 |
| NC_000012.11:g.1889643_1889647dup , CM000674.1:g.1889643_1889647dup | GRCh37 |
| NC_000012.10:g.1759904_1759908dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357103.5:c.490_494dup MANE Select | ENSP00000349616.4:p.Phe165LeufsTer27 | |
| ENST00000357103.4:c.490_494dup | ENSP00000349616.4:p.Phe165LeufsTer27 | |
| ENST00000535774.1:n.447_451dup | ||
| ENST00000537190.1:n.330_334dup | ||
| NM_024551.2:c.490_494dup | NP_078827.2:p.Phe165LeufsTer27 | |
| XM_005253789.1:c.490_494dup | XP_005253846.1:p.Phe165LeufsTer27 | |
| XM_006719018.1:c.490_494dup | XP_006719081.1:p.Phe165LeufsTer27 | |
| XM_011521024.1:c.490_494dup | XP_011519326.1:p.Phe165LeufsTer27 | |
| XM_011521025.1:c.463+2452_463+2456dup | XP_011519327.1:n.463+2452_463+2456dup | |
| XM_005253789.2:c.490_494dup | XP_005253846.1:p.Phe165LeufsTer27 | |
| XM_006719018.2:c.490_494dup | XP_006719081.1:p.Phe165LeufsTer27 | |
| XM_011521024.2:c.490_494dup | XP_011519326.1:p.Phe165LeufsTer27 | |
| NM_024551.3:c.490_494dup MANE Select | NP_078827.2:p.Phe165LeufsTer27 | |
| NM_001375363.1:c.490_494dup | NP_001362292.1:p.Phe165LeufsTer27 | |
| NM_001375364.1:c.490_494dup | NP_001362293.1:p.Phe165LeufsTer27 | |
| NM_001375365.1:c.490_494dup | NP_001362294.1:p.Phe165LeufsTer27 |