Linked Data
dbSNP Id:
rs1265749759
gnomAD v2:
21-46314938-T-TC
gnomAD v3:
21-44895023-T-TC
gnomAD v4:
21-44895023-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44895028dup , CM000683.2:g.44895028dup | GRCh38 |
| NC_000021.8:g.46314943dup , CM000683.1:g.46314943dup | GRCh37 |
| NC_000021.7:g.45139371dup | NCBI36 |
| NG_007270.2:g.38815dup , LRG_76:g.38815dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.1102dup | ENSP00000303242.6:p.Glu368GlyfsTer4 | |
| ENST00000652462.1:c.1030dup MANE Select | ENSP00000498780.1:p.Glu344GlyfsTer4 | |
| ENST00000302347.9:c.1030dup | ENSP00000303242.5:p.Glu344GlyfsTer4 | |
| ENST00000355153.8:c.1030dup | ENSP00000347279.4:p.Glu344GlyfsTer4 | |
| ENST00000397850.6:c.1030dup | ENSP00000380948.2:p.Glu344GlyfsTer4 | |
| ENST00000397852.5:c.1030dup | ENSP00000380950.1:p.Glu344GlyfsTer4 | |
| ENST00000397854.7:c.859dup | ENSP00000380952.3:p.Glu287GlyfsTer4 | |
| ENST00000397857.5:c.1030dup | ENSP00000380955.1:p.Glu344GlyfsTer4 | |
| ENST00000498666.5:n.1173dup | ||
| ENST00000523323.5:c.*857dup | ENSP00000427732.1:n.*857dup | |
| ENST00000610622.4:c.859dup | ENSP00000480700.1:p.Glu287GlyfsTer4 | |
| NM_000211.4:c.1030dup | NP_000202.3:p.Glu344GlyfsTer4 | |
| NM_001127491.2:c.1030dup | NP_001120963.2:p.Glu344GlyfsTer4 | |
| NM_001303238.1:c.823dup | NP_001290167.1:p.Glu275GlyfsTer4 | |
| XM_006724001.1:c.823dup | XP_006724064.1:p.Glu275GlyfsTer4 | |
| XM_006724001.2:c.823dup | XP_006724064.1:p.Glu275GlyfsTer4 | |
| NM_000211.5:c.1030dup MANE Select | NP_000202.3:p.Glu344GlyfsTer4 | |
| NM_001127491.3:c.1030dup | NP_001120963.2:p.Glu344GlyfsTer4 | |
| NM_001303238.2:c.823dup | NP_001290167.1:p.Glu275GlyfsTer4 |