Linked Data
dbSNP Id:
rs113171066
ExAC:
16:31196224 GT / G
gnomAD v2:
16-31196224-GT-G
gnomAD v3:
16-31184903-GT-G
gnomAD v4:
16-31184903-GT-G
MyVariant Identifiers:
chr16:g.31196226del (hg19)
chr16:g.31196225del (hg19)
chr16:g.31184904del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31184915del , CM000678.2:g.31184915del | GRCh38 |
| NC_000016.9:g.31196236del , CM000678.1:g.31196236del | GRCh37 |
| NC_000016.8:g.31103737del | NCBI36 |
| NG_012889.2:g.9784del , LRG_655:g.9784del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.524-24del MANE Select | ENSP00000254108.8:n.524-24del | |
| ENST00000254108.11:c.524-24del | ENSP00000254108.7:n.524-24del | |
| ENST00000380244.7:c.521-24del | ENSP00000369594.3:n.521-24del | |
| ENST00000487509.6:n.589-24del | ||
| ENST00000566605.5:c.524-24del | ENSP00000455073.1:n.524-24del | |
| ENST00000568685.1:c.524-24del | ENSP00000455282.1:n.524-24del | |
| NM_001170634.1:c.521-24del | NP_001164105.1:n.521-24del | |
| NM_001170937.1:c.512-24del | NP_001164408.1:n.512-24del | |
| NM_004960.3:c.524-24del , LRG_655t1:c.524-24del | NP_004951.1:n.524-24del | |
| NR_028388.2:n.629-24del | ||
| XM_005255233.3:c.-57-24del | XP_005255290.1:n.-57-24del | |
| XM_011545781.1:c.518-24del | XP_011544083.1:n.518-24del | |
| XM_011545782.1:c.-57-24del | XP_011544084.1:n.-57-24del | |
| XM_005255233.5:c.-57-24del | XP_005255290.1:n.-57-24del | |
| XM_011545782.2:c.-57-24del | XP_011544084.1:n.-57-24del | |
| XM_024450221.1:c.515-24del | XP_024305989.1:n.515-24del | |
| NM_004960.4:c.524-24del MANE Select | NP_004951.1:n.524-24del |