Linked Data
dbSNP Id:
rs1892923065
gnomAD v3:
15-66481888-A-AGAAGTTTCCATTGCTT
gnomAD v4:
15-66481888-A-AGAAGTTTCCATTGCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66481891_66481906dup , CM000677.2:g.66481891_66481906dup | GRCh38 |
| NC_000015.9:g.66774229_66774244dup , CM000677.1:g.66774229_66774244dup | GRCh37 |
| NC_000015.8:g.64561283_64561298dup | NCBI36 |
| NG_008305.1:g.100019_100034dup , LRG_725:g.100019_100034dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.627+12_627+27dup | ENSP00000508681.1:n.627+12_627+27dup | |
| ENST00000685172.1:c.693+12_693+27dup | ENSP00000509604.1:n.693+12_693+27dup | |
| ENST00000685763.1:c.546+12_546+27dup | ENSP00000509016.1:n.546+12_546+27dup | |
| ENST00000686347.1:c.569-5337_569-5322dup | ENSP00000509027.1:n.569-5337_569-5322dup | |
| ENST00000687191.1:n.1051+12_1051+27dup | ||
| ENST00000689951.1:c.744+12_744+27dup | ENSP00000509308.1:n.744+12_744+27dup | |
| ENST00000691077.1:c.693+12_693+27dup | ENSP00000509843.1:n.693+12_693+27dup | |
| ENST00000691576.1:c.569-3103_569-3088dup | ENSP00000510066.1:n.569-3103_569-3088dup | |
| ENST00000691937.1:c.693+12_693+27dup | ENSP00000508768.1:n.693+12_693+27dup | |
| ENST00000692487.1:c.693+12_693+27dup | ENSP00000509534.1:n.693+12_693+27dup | |
| ENST00000692683.1:c.627+12_627+27dup | ENSP00000508437.1:n.627+12_627+27dup | |
| ENST00000693150.1:c.549+12_549+27dup | ENSP00000510309.1:n.549+12_549+27dup | |
| ENST00000307102.10:c.693+12_693+27dup MANE Select | ENSP00000302486.5:n.693+12_693+27dup | |
| ENST00000307102.9:c.693+12_693+27dup | ENSP00000302486.4:n.693+12_693+27dup | |
| ENST00000566326.1:c.165+12_165+27dup | ENSP00000456438.1:n.165+12_165+27dup | |
| NM_002755.3:c.693+12_693+27dup , LRG_725t1:c.693+12_693+27dup | NP_002746.1:n.693+12_693+27dup | |
| XM_011521783.1:c.627+12_627+27dup | XP_011520085.1:n.627+12_627+27dup | |
| XM_011521783.3:c.627+12_627+27dup | XP_011520085.1:n.627+12_627+27dup | |
| XM_017022411.2:c.615+12_615+27dup | XP_016877900.1:n.615+12_615+27dup | |
| XM_017022412.1:c.549+12_549+27dup | XP_016877901.1:n.549+12_549+27dup | |
| XM_017022413.1:c.165+12_165+27dup | XP_016877902.1:n.165+12_165+27dup | |
| NM_002755.4:c.693+12_693+27dup MANE Select | NP_002746.1:n.693+12_693+27dup |