Linked Data
dbSNP Id:
rs898204330
gnomAD v2:
11-18357613-TGTC-T
gnomAD v3:
11-18336066-TGTC-T
gnomAD v4:
11-18336066-TGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18336069_18336071del , CM000673.2:g.18336069_18336071del | GRCh38 |
| NC_000011.9:g.18357616_18357618del , CM000673.1:g.18357616_18357618del | GRCh37 |
| NC_000011.8:g.18314192_18314194del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265963.9:c.347+123_347+125del MANE Select | ENSP00000265963.4:n.347+123_347+125del | |
| ENST00000265963.8:c.347+123_347+125del | ENSP00000265963.4:n.347+123_347+125del | |
| ENST00000418116.6:n.546+123_546+125del | ||
| ENST00000453096.6:c.347+123_347+125del | ENSP00000393638.2:n.347+123_347+125del | |
| ENST00000534641.5:c.-1-2040_-1-2038del | ENSP00000435375.1:n.-1-2040_-1-2038del | |
| ENST00000543932.5:n.760+123_760+125del | ||
| NM_001142307.1:c.347+123_347+125del | NP_001135779.1:n.347+123_347+125del | |
| NM_005316.3:c.347+123_347+125del | NP_005307.1:n.347+123_347+125del | |
| XM_006718208.2:c.347+123_347+125del | XP_006718271.1:n.347+123_347+125del | |
| XM_006718208.3:c.347+123_347+125del | XP_006718271.1:n.347+123_347+125del | |
| XM_024448457.1:c.347+123_347+125del | XP_024304225.1:n.347+123_347+125del | |
| XM_024448458.1:c.347+123_347+125del | XP_024304226.1:n.347+123_347+125del | |
| NM_005316.4:c.347+123_347+125del MANE Select | NP_005307.1:n.347+123_347+125del | |
| NM_001142307.2:c.347+123_347+125del | NP_001135779.1:n.347+123_347+125del |