Linked Data
dbSNP Id:
rs765721268
ExAC:
16:3779135 GTGC / G
gnomAD v2:
16-3779135-GTGC-G
gnomAD v4:
16-3729134-GTGC-G
MyVariant Identifiers:
chr16:g.3779136_3779138del (hg19)
chr16:g.3729136_3729138del (hg38)
chr16:g.3729135_3729137del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729146_3729148del , CM000678.2:g.3729146_3729148del | GRCh38 |
| NC_000016.9:g.3779147_3779149del , CM000678.1:g.3779147_3779149del | GRCh37 |
| NC_000016.8:g.3719148_3719150del | NCBI36 |
| NG_009873.1:g.155984_155986del | |
| NG_009873.2:g.156577_156579del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5910_5912del MANE Select | ENSP00000262367.5:p.Gln1970del | |
| ENST00000262367.9:c.5910_5912del | ENSP00000262367.5:p.Gln1970del | |
| ENST00000382070.7:c.5796_5798del | ENSP00000371502.3:p.Gln1932del | |
| NM_001079846.1:c.5796_5798del | NP_001073315.1:p.Gln1932del | |
| NM_004380.2:c.5910_5912del | NP_004371.2:p.Gln1970del | |
| XM_005255124.3:c.5865_5867del | XP_005255181.1:p.Gln1955del | |
| XM_005255125.3:c.5493_5495del | XP_005255182.1:p.Gln1831del | |
| XM_006720848.2:c.5649_5651del | XP_006720911.1:p.Gln1883del | |
| XM_011522380.1:c.5856_5858del | XP_011520682.1:p.Gln1952del | |
| XM_011522381.1:c.5157_5159del | XP_011520683.1:p.Gln1719del | |
| XM_005255124.4:c.5865_5867del | XP_005255181.1:p.Gln1955del | |
| XM_005255125.4:c.5493_5495del | XP_005255182.1:p.Gln1831del | |
| XM_006720848.3:c.5649_5651del | XP_006720911.1:p.Gln1883del | |
| XM_011522381.2:c.5157_5159del | XP_011520683.1:p.Gln1719del | |
| XM_017022944.1:c.5904_5906del | XP_016878433.1:p.Gln1968del | |
| NM_004380.3:c.5910_5912del MANE Select | NP_004371.2:p.Gln1970del |