Linked Data
gnomAD v2:
6-137193335-G-GTTTTTTTTTTTTT
gnomAD v3:
6-136872197-G-GTTTTTTTTTTTTT
gnomAD v4:
6-136872197-G-GTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872201_136872202insTTTTTTTTTTTTT , CM000668.2:g.136872201_136872202insTTTTTTTTTTTTT | GRCh38 |
| NC_000006.11:g.137193339_137193340insTTTTTTTTTTTTT , CM000668.1:g.137193339_137193340insTTTTTTTTTTTTT | GRCh37 |
| NC_000006.10:g.137235032_137235033insTTTTTTTTTTTTT | NCBI36 |
| NG_008462.1:g.54622_54623insTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.751_752insTTTTTTTTTTTTT MANE Select | ENSP00000315680.3:p.Ser251PhefsTer18 | |
| ENST00000541292.6:c.*16_*17insTTTTTTTTTTTTT | ENSP00000441004.1:n.*16_*17insTTTTTTTTTTT... | |
| ENST00000678002.1:c.439_440insTTTTTTTTTTTTT | ||
| ENST00000678557.1:c.637_638insTTTTTTTTTTTTT | ENSP00000502962.1:p.Ser213PhefsTer18 | |
| ENST00000678593.1:c.756_757insTTTTTTTTTTTTT | ENSP00000503841.1:n.756_757insTTTTTTTTTTT... | |
| ENST00000679286.1:c.631_632insTTTTTTTTTTTTT | ENSP00000503168.1:p.Ser211PhefsTer18 | |
| ENST00000318471.4:c.751_752insTTTTTTTTTTTTT | ENSP00000315680.3:p.Ser251PhefsTer18 | |
| NM_000288.3:c.751_752insTTTTTTTTTTTTT | NP_000279.1:p.Ser251PhefsTer18 | |
| XM_005267019.3:c.637_638insTTTTTTTTTTTTT | XP_005267076.1:p.Ser213PhefsTer18 | |
| XM_006715502.1:c.457_458insTTTTTTTTTTTTT | XP_006715565.1:p.Ser153PhefsTer18 | |
| XM_011535900.1:c.527-25941_527-25940insTTTTTTTTTTTTT | XP_011534202.1:n.527-25941_527-25940insTT... | |
| XM_005267019.4:c.637_638insTTTTTTTTTTTTT | XP_005267076.1:p.Ser213PhefsTer18 | |
| XM_006715502.2:c.457_458insTTTTTTTTTTTTT | XP_006715565.1:p.Ser153PhefsTer18 | |
| XM_017010934.2:c.527-25941_527-25940insTTTTTTTTTTTTT | XP_016866423.1:n.527-25941_527-25940insTT... | |
| NM_000288.4:c.751_752insTTTTTTTTTTTTT MANE Select | NP_000279.1:p.Ser251PhefsTer18 |