Linked Data
dbSNP Id:
rs1044157937
gnomAD v2:
11-74204298-T-TG
gnomAD v3:
11-74493253-T-TG
gnomAD v4:
11-74493253-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74493254dup , CM000673.2:g.74493254dup | GRCh38 |
| NC_000011.9:g.74204299dup , CM000673.1:g.74204299dup | GRCh37 |
| NC_000011.8:g.73881947dup | NCBI36 |
| NG_051333.1:g.5460dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310109.5:c.450dup MANE Select | ENSP00000309463.4:p.Lys151GlnfsTer30 | |
| ENST00000310109.4:c.450dup | ENSP00000309463.4:p.Lys151GlnfsTer30 | |
| ENST00000527115.1:c.62dup | ||
| ENST00000528085.1:c.181+213dup | ||
| NM_001144869.1:c.450dup | NP_001138341.1:p.Lys151GlnfsTer30 | |
| XM_011545021.1:c.450dup | XP_011543323.1:p.Lys151GlnfsTer7 | |
| NM_001144869.2:c.450dup | NP_001138341.1:p.Lys151GlnfsTer30 | |
| NM_001329941.1:c.450dup | NP_001316870.1:p.Lys151GlnfsTer7 | |
| NM_001329942.1:c.237+213dup | NP_001316871.1:n.237+213dup | |
| NM_001144869.3:c.450dup MANE Select | NP_001138341.1:p.Lys151GlnfsTer30 | |
| NM_001329941.2:c.450dup | NP_001316870.1:p.Lys151GlnfsTer7 | |
| NM_001329942.2:c.237+213dup | NP_001316871.1:n.237+213dup |