Linked Data
dbSNP Id:
rs1396955620
gnomAD v2:
6-137193339-TCACCA-T
gnomAD v3:
6-136872201-TCACCA-T
gnomAD v4:
6-136872201-TCACCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872202_136872206del , CM000668.2:g.136872202_136872206del | GRCh38 |
| NC_000006.11:g.137193340_137193344del , CM000668.1:g.137193340_137193344del | GRCh37 |
| NC_000006.10:g.137235033_137235037del | NCBI36 |
| NG_008462.1:g.54623_54627del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.752_756del MANE Select | ENSP00000315680.3:p.Ser251PhefsTer12 | |
| ENST00000541292.6:c.*17_*21del | ENSP00000441004.1:n.*17_*21del | |
| ENST00000678002.1:c.440_444del | ||
| ENST00000678557.1:c.638_642del | ENSP00000502962.1:p.Ser213PhefsTer12 | |
| ENST00000678593.1:c.757_761del | ENSP00000503841.1:n.757_761del | |
| ENST00000679286.1:c.632_636del | ENSP00000503168.1:p.Ser211PhefsTer12 | |
| ENST00000318471.4:c.752_756del | ENSP00000315680.3:p.Ser251PhefsTer12 | |
| NM_000288.3:c.752_756del | NP_000279.1:p.Ser251PhefsTer12 | |
| XM_005267019.3:c.638_642del | XP_005267076.1:p.Ser213PhefsTer12 | |
| XM_006715502.1:c.458_462del | XP_006715565.1:p.Ser153PhefsTer12 | |
| XM_011535900.1:c.527-25940_527-25936del | XP_011534202.1:n.527-25940_527-25936del | |
| XM_005267019.4:c.638_642del | XP_005267076.1:p.Ser213PhefsTer12 | |
| XM_006715502.2:c.458_462del | XP_006715565.1:p.Ser153PhefsTer12 | |
| XM_017010934.2:c.527-25940_527-25936del | XP_016866423.1:n.527-25940_527-25936del | |
| NM_000288.4:c.752_756del MANE Select | NP_000279.1:p.Ser251PhefsTer12 |