Linked Data
dbSNP Id:
rs1250601134
gnomAD v2:
16-31276861-T-TGAACA
gnomAD v3:
16-31265540-T-TGAACA
gnomAD v4:
16-31265540-T-TGAACA
MyVariant Identifiers:
chr16:g.31276861_31276862insGAACA (hg19)
chr16:g.31265540_31265541insGAACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31265541_31265545dup , CM000678.2:g.31265541_31265545dup | GRCh38 |
| NC_000016.9:g.31276862_31276866dup , CM000678.1:g.31276862_31276866dup | GRCh37 |
| NC_000016.8:g.31184363_31184367dup | NCBI36 |
| NG_011719.1:g.10575_10579dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544665.9:c.238+43_238+47dup MANE Select | ENSP00000441691.3:n.238+43_238+47dup | |
| ENST00000648685.1:c.238+43_238+47dup | ENSP00000496959.1:n.238+43_238+47dup | |
| ENST00000287497.12:c.238+43_238+47dup | ENSP00000287497.8:n.238+43_238+47dup | |
| ENST00000544665.7:c.238+43_238+47dup | ENSP00000441691.2:n.238+43_238+47dup | |
| NM_000632.3:c.238+43_238+47dup | NP_000623.2:n.238+43_238+47dup | |
| NM_001145808.1:c.238+43_238+47dup | NP_001139280.1:n.238+43_238+47dup | |
| XM_006721045.1:c.238+43_238+47dup | XP_006721108.1:n.238+43_238+47dup | |
| XM_011545850.1:c.23+43_23+47dup | XP_011544152.1:n.23+43_23+47dup | |
| XM_011545851.1:c.238+43_238+47dup | XP_011544153.1:n.238+43_238+47dup | |
| XR_950796.1:n.328+43_328+47dup | ||
| XM_011545850.2:c.23+43_23+47dup | XP_011544152.1:n.23+43_23+47dup | |
| XM_011545851.2:c.238+43_238+47dup | XP_011544153.1:n.238+43_238+47dup | |
| XM_017023216.1:c.238+43_238+47dup | XP_016878705.1:n.238+43_238+47dup | |
| NM_000632.4:c.238+43_238+47dup MANE Select | NP_000623.2:n.238+43_238+47dup | |
| NM_001145808.2:c.238+43_238+47dup | NP_001139280.1:n.238+43_238+47dup |