Linked Data
gnomAD v3:
6-136872197-G-GTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
6-136872197-G-GTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTT , CM000668.2:g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000006.11:g.137193339_137193340insTTTTTTTTTTTTTTTTTTTTTTTT , CM000668.1:g.137193339_137193340insTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000006.10:g.137235032_137235033insTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_008462.1:g.54622_54623insTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.751_752insTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000315680.3:p.Phe250_Ser251insPhePh... | |
| ENST00000541292.6:c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000441004.1:n.*16_*17insTTTTTTTTTTT... | |
| ENST00000678002.1:c.439_440insTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000678557.1:c.637_638insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000502962.1:p.Phe212_Ser213insPhePh... | |
| ENST00000678593.1:c.756_757insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000503841.1:n.756_757insTTTTTTTTTTT... | |
| ENST00000679286.1:c.631_632insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000503168.1:p.Phe210_Ser211insPhePh... | |
| ENST00000318471.4:c.751_752insTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000315680.3:p.Phe250_Ser251insPhePh... | |
| NM_000288.3:c.751_752insTTTTTTTTTTTTTTTTTTTTTTTT | NP_000279.1:p.Phe250_Ser251insPhePhePhePh... | |
| XM_005267019.3:c.637_638insTTTTTTTTTTTTTTTTTTTTTTTT | XP_005267076.1:p.Phe212_Ser213insPhePhePh... | |
| XM_006715502.1:c.457_458insTTTTTTTTTTTTTTTTTTTTTTTT | XP_006715565.1:p.Phe152_Ser153insPhePhePh... | |
| XM_011535900.1:c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTT | XP_011534202.1:n.527-25941_527-25940insTT... | |
| XM_005267019.4:c.637_638insTTTTTTTTTTTTTTTTTTTTTTTT | XP_005267076.1:p.Phe212_Ser213insPhePhePh... | |
| XM_006715502.2:c.457_458insTTTTTTTTTTTTTTTTTTTTTTTT | XP_006715565.1:p.Phe152_Ser153insPhePhePh... | |
| XM_017010934.2:c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTT | XP_016866423.1:n.527-25941_527-25940insTT... | |
| NM_000288.4:c.751_752insTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_000279.1:p.Phe250_Ser251insPhePhePhePh... |