Linked Data
ClinVar Variation Id:
1356247
ClinVar RCV Id:
RCV001869989
dbSNP Id:
rs1263493813
gnomAD v2:
18-21115451-G-GGA
gnomAD v4:
18-23535487-G-GGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23535488_23535489dup , CM000680.2:g.23535488_23535489dup | GRCh38 |
| NC_000018.9:g.21115452_21115453dup , CM000680.1:g.21115452_21115453dup | GRCh37 |
| NC_000018.8:g.19369450_19369451dup | NCBI36 |
| NG_012795.1:g.56129_56130dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.3457_3458dup MANE Select | ENSP00000269228.4:p.Leu1154ProfsTer6 | |
| ENST00000269228.9:c.3457_3458dup | ENSP00000269228.4:p.Leu1154ProfsTer6 | |
| ENST00000586150.5:c.212_213dup | ||
| ENST00000588867.1:n.212_213dup | ||
| ENST00000591051.1:c.2535_2536dup | ||
| ENST00000591107.6:c.134_135dup | ||
| NM_000271.4:c.3457_3458dup | NP_000262.2:p.Leu1154ProfsTer6 | |
| XM_005258277.1:c.3508_3509dup | XP_005258334.1:p.Leu1171ProfsTer6 | |
| XM_005258278.3:c.3508_3509dup | XP_005258335.1:p.Leu1171ProfsTer6 | |
| XM_005258279.1:c.3457_3458dup | XP_005258336.1:p.Leu1154ProfsTer6 | |
| XM_006722479.2:c.3508_3509dup | XP_006722542.1:p.Leu1171ProfsTer6 | |
| XM_011526015.1:c.3043_3044dup | XP_011524317.1:p.Leu1016ProfsTer6 | |
| XM_005258278.5:c.3508_3509dup | XP_005258335.1:p.Leu1171ProfsTer6 | |
| XM_005258279.2:c.3457_3458dup | XP_005258336.1:p.Leu1154ProfsTer6 | |
| XM_006722479.3:c.3508_3509dup | XP_006722542.1:p.Leu1171ProfsTer6 | |
| XM_017025784.1:c.3508_3509dup | XP_016881273.1:p.Leu1171ProfsTer6 | |
| XM_017025785.1:c.3508_3509dup | XP_016881274.1:p.Leu1171ProfsTer6 | |
| XM_017025786.1:c.3457_3458dup | XP_016881275.1:p.Leu1154ProfsTer6 | |
| XM_017025787.1:c.3457_3458dup | XP_016881276.1:p.Leu1154ProfsTer6 | |
| NM_000271.5:c.3457_3458dup MANE Select | NP_000262.2:p.Leu1154ProfsTer6 |