Linked Data
ClinVar Variation Id:
2168955
ClinVar RCV Id:
RCV003100492
dbSNP Id:
rs760140791
ExAC:
16:56370783 TG / T
gnomAD v2:
16-56370783-TG-T
gnomAD v3:
16-56336871-TG-T
gnomAD v4:
16-56336871-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336874del , CM000678.2:g.56336874del | GRCh38 |
| NC_000016.9:g.56370786del , CM000678.1:g.56370786del | GRCh37 |
| NC_000016.8:g.54928287del | NCBI36 |
| NG_042800.1:g.150536del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.723+14del | ENSP00000262494.7:n.723+14del | |
| ENST00000262493.12:c.723+14del MANE Select | ENSP00000262493.6:n.723+14del | |
| ENST00000262494.12:c.723+14del | ENSP00000262494.7:n.723+14del | |
| ENST00000562316.6:c.390+14del | ENSP00000457238.2:n.390+14del | |
| ENST00000564727.2:c.27+14del | ENSP00000454971.2:n.27+14del | |
| ENST00000568375.2:c.115+14del | ||
| ENST00000638185.1:n.938+14del | ||
| ENST00000638210.1:n.1023+14del | ||
| ENST00000638705.1:c.723+14del | ENSP00000491223.1:n.723+14del | |
| ENST00000638836.1:n.633+14del | ||
| ENST00000639055.1:n.1444+14del | ||
| ENST00000639251.1:n.624+14del | ||
| ENST00000639268.1:c.358+14del | ||
| ENST00000639341.1:c.248+14del | ||
| ENST00000639770.1:c.761+14del | ENSP00000491999.1:n.761+14del | |
| ENST00000640390.1:n.653+14del | ||
| ENST00000640469.1:c.87+14del | ENSP00000491875.1:n.87+14del | |
| ENST00000640560.1:n.499+14del | ||
| ENST00000640893.1:c.*121+14del | ENSP00000492677.1:n.*121+14del | |
| ENST00000262493.10:c.723+14del | ENSP00000262493.6:n.723+14del | |
| ENST00000262494.11:c.723+14del | ENSP00000262494.7:n.723+14del | |
| ENST00000568375.1:n.115+14del | ||
| NM_020988.2:c.723+14del | NP_066268.1:n.723+14del | |
| NM_138736.2:c.723+14del | NP_620073.2:n.723+14del | |
| XM_011523003.1:c.597+14del | XP_011521305.1:n.597+14del | |
| XM_011523003.3:c.597+14del | XP_011521305.1:n.597+14del | |
| NM_020988.3:c.723+14del MANE Select | NP_066268.1:n.723+14del | |
| NM_138736.3:c.723+14del | NP_620073.2:n.723+14del |