Linked Data
dbSNP Id:
rs1430085538
gnomAD v3:
15-67066500-T-TGGGA
gnomAD v4:
15-67066500-T-TGGGA
MyVariant Identifiers:
chr15:g.67358838_67358839insGGGA (hg19)
chr15:g.67066500_67066501insGGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67066502_67066505dup , CM000677.2:g.67066502_67066505dup | GRCh38 |
| NC_000015.9:g.67358840_67358843dup , CM000677.1:g.67358840_67358843dup | GRCh37 |
| NC_000015.8:g.65145894_65145897dup | NCBI36 |
| NG_011990.1:g.5646_5649dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559460.6:c.-110+2558_-110+2561dup | ENSP00000453082.2:n.-110+2558_-110+2561dup | |
| ENST00000560424.2:c.206+142_206+145dup | ENSP00000455540.2:n.206+142_206+145dup | |
| ENST00000327367.9:c.206+142_206+145dup MANE Select | ENSP00000332973.4:n.206+142_206+145dup | |
| ENST00000327367.8:c.206+142_206+145dup | ENSP00000332973.4:n.206+142_206+145dup | |
| ENST00000559460.5:c.-110+2558_-110+2561dup | ENSP00000453082.1:n.-110+2558_-110+2561dup | |
| NM_005902.3:c.206+142_206+145dup | NP_005893.1:n.206+142_206+145dup | |
| XM_011521559.1:c.206+142_206+145dup | XP_011519861.1:n.206+142_206+145dup | |
| XM_011521559.3:c.206+142_206+145dup | XP_011519861.1:n.206+142_206+145dup | |
| NM_005902.4:c.206+142_206+145dup MANE Select | NP_005893.1:n.206+142_206+145dup |