Linked Data
ClinVar Variation Id:
94082
dbSNP Id:
rs113913469
ExAC:
15:66777315 G / GTC
gnomAD v2:
15-66777315-G-GTC
gnomAD v3:
15-66484977-G-GTC
gnomAD v4:
15-66484977-G-GTC
MyVariant Identifiers:
chr15:g.66777320_66777321dup (hg19)
chr15:g.66777320_66777321dupTC (hg19)
chr15:g.66777315_66777316insTC (hg19)
chr15:g.66484982_66484983dupTC (hg38)
chr15:g.66484977_66484978insTC (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66484982_66484983dup , CM000677.2:g.66484982_66484983dup | GRCh38 |
| NC_000015.9:g.66777320_66777321dup , CM000677.1:g.66777320_66777321dup | GRCh37 |
| NC_000015.8:g.64564374_64564375dup | NCBI36 |
| NG_008305.1:g.103110_103111dup , LRG_725:g.103110_103111dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2246_628-2245dup | ENSP00000508681.1:n.628-2246_628-2245dup | |
| ENST00000685172.1:c.694-8_694-7dup | ENSP00000509604.1:n.694-8_694-7dup | |
| ENST00000685763.1:c.547-8_547-7dup | ENSP00000509016.1:n.547-8_547-7dup | |
| ENST00000686347.1:c.569-2246_569-2245dup | ENSP00000509027.1:n.569-2246_569-2245dup | |
| ENST00000687191.1:n.1052-8_1052-7dup | ||
| ENST00000687481.1:n.101_102dup | ||
| ENST00000689951.1:c.745-8_745-7dup | ENSP00000509308.1:n.745-8_745-7dup | |
| ENST00000691077.1:c.694-12_694-11dup | ENSP00000509843.1:n.694-12_694-11dup | |
| ENST00000691576.1:c.569-12_569-11dup | ENSP00000510066.1:n.569-12_569-11dup | |
| ENST00000691937.1:c.694-8_694-7dup | ENSP00000508768.1:n.694-8_694-7dup | |
| ENST00000692487.1:c.694-12_694-11dup | ENSP00000509534.1:n.694-12_694-11dup | |
| ENST00000692683.1:c.628-8_628-7dup | ENSP00000508437.1:n.628-8_628-7dup | |
| ENST00000693150.1:c.550-8_550-7dup | ENSP00000510309.1:n.550-8_550-7dup | |
| ENST00000307102.10:c.694-8_694-7dup MANE Select | ENSP00000302486.5:n.694-8_694-7dup | |
| ENST00000307102.9:c.694-8_694-7dup | ENSP00000302486.4:n.694-8_694-7dup | |
| ENST00000566326.1:c.166-8_166-7dup | ENSP00000456438.1:n.166-8_166-7dup | |
| NM_002755.3:c.694-8_694-7dup , LRG_725t1:c.694-8_694-7dup | NP_002746.1:n.694-8_694-7dup | |
| XM_011521783.1:c.628-8_628-7dup | XP_011520085.1:n.628-8_628-7dup | |
| XM_011521783.3:c.628-8_628-7dup | XP_011520085.1:n.628-8_628-7dup | |
| XM_017022411.2:c.616-8_616-7dup | XP_016877900.1:n.616-8_616-7dup | |
| XM_017022412.1:c.550-8_550-7dup | XP_016877901.1:n.550-8_550-7dup | |
| XM_017022413.1:c.166-8_166-7dup | XP_016877902.1:n.166-8_166-7dup | |
| NM_002755.4:c.694-8_694-7dup MANE Select | NP_002746.1:n.694-8_694-7dup |