Linked Data
dbSNP Id:
rs1889798390
gnomAD v3:
14-91272907-C-CGGGGCTGCAGCA
gnomAD v4:
14-91272907-C-CGGGGCTGCAGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272910_91272921dup , CM000676.2:g.91272910_91272921dup | GRCh38 |
| NC_000014.8:g.91739254_91739265dup , CM000676.1:g.91739254_91739265dup | GRCh37 |
| NC_000014.7:g.90809007_90809018dup | NCBI36 |
| NG_033118.1:g.149926_149937dup | |
| NG_033118.2:g.149926_149937dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5793_5804dup MANE Select | ENSP00000374507.6:p.Pro1935_Ala1936insAlaAlaAlaPro | |
| ENST00000331194.8:c.1227_1238dup | ENSP00000330332.8:p.Pro413_Ala414insAlaAlaAlaPro | |
| ENST00000389857.10:c.5793_5804dup | ENSP00000374507.6:p.Pro1935_Ala1936insAlaAlaAlaPro | |
| ENST00000556726.5:c.2021_2032dup | ||
| NM_001080414.3:c.5793_5804dup | NP_001073883.2:p.Pro1935_Ala1936insAlaAlaAlaPro | |
| XM_011536796.1:c.5685_5696dup | XP_011535098.1:p.Pro1899_Ala1900insAlaAlaAlaPro | |
| XM_011536796.2:c.5685_5696dup | XP_011535098.1:p.Pro1899_Ala1900insAlaAlaAlaPro | |
| XM_017021336.1:c.2874_2885dup | XP_016876825.1:p.Pro962_Ala963insAlaAlaAlaPro | |
| NM_001080414.4:c.5793_5804dup MANE Select | NP_001073883.2:p.Pro1935_Ala1936insAlaAlaAlaPro |