Linked Data
dbSNP Id:
rs1308421948
gnomAD v2:
X-66765601-G-GGCA
gnomAD v3:
X-67545759-G-GGCA
gnomAD v4:
X-67545759-G-GGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545768_67545770dup , CM000685.2:g.67545768_67545770dup | GRCh38 |
| NC_000023.10:g.66765610_66765612dup , CM000685.1:g.66765610_66765612dup | GRCh37 |
| NC_000023.9:g.66682335_66682337dup | NCBI36 |
| NG_009014.2:g.6737_6739dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.622_624dup | ENSP00000379358.4:p.Ser208_Gly209insSer | |
| ENST00000374690.9:c.622_624dup MANE Select | ENSP00000363822.3:p.Ser208_Gly209insSer | |
| ENST00000396044.8:c.622_624dup | ENSP00000379359.3:p.Ser208_Gly209insSer | |
| ENST00000612452.5:c.622_624dup | ENSP00000484033.2:p.Ser208_Gly209insSer | |
| ENST00000374690.7:c.622_624dup | ENSP00000363822.3:p.Ser208_Gly209insSer | |
| ENST00000396044.7:c.622_624dup | ENSP00000379359.3:p.Ser208_Gly209insSer | |
| ENST00000504326.5:c.622_624dup | ENSP00000421155.1:p.Ser208_Gly209insSer | |
| ENST00000513847.5:n.949_951dup | ||
| ENST00000514029.5:c.622_624dup | ENSP00000425199.1:p.Ser208_Gly209insSer | |
| ENST00000612010.4:c.622_624dup | ENSP00000482407.1:p.Ser208_Gly209insSer | |
| ENST00000612452.4:c.52_54dup | ENSP00000484033.1:p.Ser18_Gly19insSer | |
| ENST00000613054.2:c.622_624dup | ENSP00000479013.1:p.Ser208_Gly209insSer | |
| NM_000044.3:c.622_624dup | NP_000035.2:p.Ser208_Gly209insSer | |
| NM_000044.4:c.622_624dup | NP_000035.2:p.Ser208_Gly209insSer | |
| NM_001011645.3:c.-1162_-1160dup | NP_001011645.1:n.-1162_-1160dup | |
| NM_001348061.1:c.622_624dup | NP_001334990.1:p.Ser208_Gly209insSer | |
| NM_001348063.1:c.622_624dup | NP_001334992.1:p.Ser208_Gly209insSer | |
| NM_001348064.1:c.622_624dup | NP_001334993.1:p.Ser208_Gly209insSer | |
| NM_000044.6:c.622_624dup MANE Select | NP_000035.2:p.Ser208_Gly209insSer |