Linked Data
dbSNP Id:
rs1031660368
gnomAD v2:
17-36101081-G-GA
gnomAD v3:
17-37741090-G-GA
gnomAD v4:
17-37741090-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37741098dup , CM000679.2:g.37741098dup | GRCh38 |
| NC_000017.10:g.36101089dup , CM000679.1:g.36101089dup | GRCh37 |
| NC_000017.9:g.33175202dup | NCBI36 |
| NG_013019.2:g.9016dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617811.5:c.345-1452dup MANE Select | ENSP00000480291.1:n.345-1452dup | |
| ENST00000613727.4:c.345-1452dup | ENSP00000477524.1:n.345-1452dup | |
| ENST00000614313.4:c.345-1452dup | ENSP00000482529.1:n.345-1452dup | |
| ENST00000617272.4:c.345-1452dup | ENSP00000478682.1:n.345-1452dup | |
| ENST00000617811.4:c.345-1452dup | ENSP00000480291.1:n.345-1452dup | |
| ENST00000620125.1:c.345-1452dup | ENSP00000481245.1:n.345-1452dup | |
| ENST00000621123.4:c.345-1452dup | ENSP00000482711.1:n.345-1452dup | |
| NM_000458.3:c.345-1452dup | NP_000449.1:n.345-1452dup | |
| NM_001165923.3:c.345-1452dup | NP_001159395.1:n.345-1452dup | |
| NM_001304286.1:c.345-1452dup | NP_001291215.1:n.345-1452dup | |
| XM_011525160.1:c.345-1452dup | XP_011523462.1:n.345-1452dup | |
| XM_011525161.1:c.345-1452dup | XP_011523463.1:n.345-1452dup | |
| XM_011525162.1:c.345-1452dup | XP_011523464.1:n.345-1452dup | |
| XM_011525163.1:c.345-1452dup | XP_011523465.1:n.345-1452dup | |
| XM_011525164.1:c.345-1452dup | XP_011523466.1:n.345-1452dup | |
| XM_011525162.2:c.345-1452dup | XP_011523464.1:n.345-1452dup | |
| XM_011525163.2:c.345-1452dup | XP_011523465.1:n.345-1452dup | |
| NM_000458.4:c.345-1452dup MANE Select | NP_000449.1:n.345-1452dup | |
| NM_001165923.4:c.345-1452dup | NP_001159395.1:n.345-1452dup | |
| NM_001304286.2:c.345-1452dup | NP_001291215.1:n.345-1452dup |