Linked Data
ClinVar Variation Id:
1045678
dbSNP Id:
rs776444312
gnomAD v2:
1-169454957-G-GGCC
gnomAD v3:
1-169485719-G-GGCC
gnomAD v4:
1-169485719-G-GGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485735_169485737dup , CM000663.2:g.169485735_169485737dup | GRCh38 |
| NC_000001.10:g.169454973_169454975dup , CM000663.1:g.169454973_169454975dup | GRCh37 |
| NC_000001.9:g.167721597_167721599dup | NCBI36 |
| NG_008255.1:g.5249_5251dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.45_47dup MANE Select | ENSP00000236137.5:p.Ala16_Thr17insAla | |
| ENST00000646596.1:c.45_47dup | ENSP00000494404.1:p.Ala16_Thr17insAla | |
| ENST00000236137.9:c.45_47dup | ENSP00000236137.5:p.Ala16_Thr17insAla | |
| ENST00000367804.4:c.45_47dup | ENSP00000356778.3:p.Ala16_Thr17insAla | |
| NM_006996.2:c.45_47dup | NP_008927.1:p.Ala16_Thr17insAla | |
| XM_011509076.1:c.12+331_12+333dup | XP_011507378.1:n.12+331_12+333dup | |
| XM_011509077.1:c.45_47dup | XP_011507379.1:p.Ala16_Thr17insAla | |
| NM_001319667.1:c.45_47dup | NP_001306596.1:p.Ala16_Thr17insAla | |
| NM_006996.3:c.45_47dup MANE Select | NP_008927.1:p.Ala16_Thr17insAla |