Linked Data
ClinVar Variation Id:
38339
dbSNP Id:
rs202247791
gnomAD v2:
6-129571327-A-AACGTGTTC
gnomAD v3:
6-129250182-A-AACGTGTTC
gnomAD v4:
6-129250182-A-AACGTGTTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129250183_129250190dup , CM000668.2:g.129250183_129250190dup | GRCh38 |
| NC_000006.11:g.129571328_129571335dup , CM000668.1:g.129571328_129571335dup | GRCh37 |
| NC_000006.10:g.129613021_129613028dup | NCBI36 |
| NG_008678.1:g.372043_372050dup , LRG_409:g.372043_372050dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.1854_1861dup | ENSP00000481744.2:p.Leu621HisfsTer7 | |
| ENST00000618192.5:c.1854_1861dup | ENSP00000480802.2:p.Leu621HisfsTer7 | |
| ENST00000421865.3:c.1854_1861dup MANE Select | ENSP00000400365.2:p.Leu621HisfsTer7 | |
| ENST00000421865.2:c.1854_1861dup | ENSP00000400365.2:p.Leu621HisfsTer7 | |
| ENST00000617695.4:c.1854_1861dup | ENSP00000481744.1:p.Leu621HisfsTer7 | |
| ENST00000618192.4:c.1854_1861dup | ENSP00000480802.1:p.Leu621HisfsTer7 | |
| NM_000426.3:c.1854_1861dup , LRG_409t1:c.1854_1861dup | NP_000417.2:p.Leu621HisfsTer7 | |
| NM_001079823.1:c.1854_1861dup | NP_001073291.1:p.Leu621HisfsTer7 | |
| XM_005266981.2:c.1854_1861dup | XP_005267038.1:p.Leu621HisfsTer7 | |
| XM_005266982.2:c.1854_1861dup | XP_005267039.1:p.Leu621HisfsTer7 | |
| XM_011535820.1:c.1854_1861dup | XP_011534122.1:p.Leu621HisfsTer7 | |
| XM_005266981.3:c.1854_1861dup | XP_005267038.1:p.Leu621HisfsTer7 | |
| XM_005266982.3:c.1854_1861dup | XP_005267039.1:p.Leu621HisfsTer7 | |
| XM_011535820.2:c.1854_1861dup | XP_011534122.1:p.Leu621HisfsTer7 | |
| XM_017010851.2:c.1860_1867dup | XP_016866340.1:p.Leu623HisfsTer7 | |
| XM_017010852.1:c.-16_-9dup | XP_016866341.1:n.-16_-9dup | |
| XM_017010853.1:c.1854_1861dup | XP_016866342.1:p.Leu621HisfsTer7 | |
| NM_000426.4:c.1854_1861dup MANE Select | NP_000417.3:p.Leu621HisfsTer7 | |
| NM_001079823.2:c.1854_1861dup | NP_001073291.2:p.Leu621HisfsTer7 |