Linked Data
gnomAD v2:
6-137193335-G-GTTTTTTTTTTT
gnomAD v3:
6-136872197-G-GTTTTTTTTTTT
gnomAD v4:
6-136872197-G-GTTTTTTTTTTT
MyVariant Identifiers:
chr6:g.137193335_137193336insTTTTTTTTTTT (hg19)
chr6:g.136872197_136872198insTTTTTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872201_136872202insTTTTTTTTTTT , CM000668.2:g.136872201_136872202insTTTTTTTTTTT | GRCh38 |
| NC_000006.11:g.137193339_137193340insTTTTTTTTTTT , CM000668.1:g.137193339_137193340insTTTTTTTTTTT | GRCh37 |
| NC_000006.10:g.137235032_137235033insTTTTTTTTTTT | NCBI36 |
| NG_008462.1:g.54622_54623insTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.751_752insTTTTTTTTTTT MANE Select | ENSP00000315680.3:p.Ser251PhefsTer21 | |
| ENST00000541292.6:c.*16_*17insTTTTTTTTTTT | ENSP00000441004.1:n.*16_*17insTTTTTTTTTTT... | |
| ENST00000678002.1:c.439_440insTTTTTTTTTTT | ||
| ENST00000678557.1:c.637_638insTTTTTTTTTTT | ENSP00000502962.1:p.Ser213PhefsTer21 | |
| ENST00000678593.1:c.756_757insTTTTTTTTTTT | ENSP00000503841.1:n.756_757insTTTTTTTTTTT... | |
| ENST00000679286.1:c.631_632insTTTTTTTTTTT | ENSP00000503168.1:p.Ser211PhefsTer21 | |
| ENST00000318471.4:c.751_752insTTTTTTTTTTT | ENSP00000315680.3:p.Ser251PhefsTer21 | |
| NM_000288.3:c.751_752insTTTTTTTTTTT | NP_000279.1:p.Ser251PhefsTer21 | |
| XM_005267019.3:c.637_638insTTTTTTTTTTT | XP_005267076.1:p.Ser213PhefsTer21 | |
| XM_006715502.1:c.457_458insTTTTTTTTTTT | XP_006715565.1:p.Ser153PhefsTer21 | |
| XM_011535900.1:c.527-25941_527-25940insTTTTTTTTTTT | XP_011534202.1:n.527-25941_527-25940insTT... | |
| XM_005267019.4:c.637_638insTTTTTTTTTTT | XP_005267076.1:p.Ser213PhefsTer21 | |
| XM_006715502.2:c.457_458insTTTTTTTTTTT | XP_006715565.1:p.Ser153PhefsTer21 | |
| XM_017010934.2:c.527-25941_527-25940insTTTTTTTTTTT | XP_016866423.1:n.527-25941_527-25940insTT... | |
| NM_000288.4:c.751_752insTTTTTTTTTTT MANE Select | NP_000279.1:p.Ser251PhefsTer21 |