Linked Data
dbSNP Id:
rs751827245
ExAC:
1:196965078 TTA / T
gnomAD v2:
1-196965078-TTA-T
gnomAD v4:
1-196995948-TTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995955_196995956del , CM000663.2:g.196995955_196995956del | GRCh38 |
| NC_000001.10:g.196965085_196965086del , CM000663.1:g.196965085_196965086del | GRCh37 |
| NC_000001.9:g.195231708_195231709del | NCBI36 |
| NG_016365.1:g.23419_23420del , LRG_227:g.23419_23420del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.535+56_535+57del | ENSP00000514393.1:n.535+56_535+57del | |
| ENST00000699467.1:n.859+56_859+57del | ||
| ENST00000699468.1:c.-24-159_-24-158del | ENSP00000514394.1:n.-24-159_-24-158del | |
| ENST00000256785.5:c.790+56_790+57del MANE Select | ENSP00000256785.4:n.790+56_790+57del | |
| ENST00000256785.4:c.790+56_790+57del | ENSP00000256785.4:n.790+56_790+57del | |
| NM_030787.3:c.790+56_790+57del , LRG_227t1:c.790+56_790+57del | NP_110414.1:n.790+56_790+57del | |
| XM_011510020.1:c.799+56_799+57del | XP_011508322.1:n.799+56_799+57del | |
| XM_011510020.2:c.799+56_799+57del | XP_011508322.1:n.799+56_799+57del | |
| NM_030787.4:c.790+56_790+57del MANE Select | NP_110414.1:n.790+56_790+57del |