Linked Data
dbSNP Id:
rs904409224
gnomAD v3:
7-150948417-C-CCCCCTTCCT
gnomAD v4:
7-150948417-C-CCCCCTTCCT
MyVariant Identifiers:
chr7:g.150645505_150645506insCCCCTTCCT (hg19)
chr7:g.150948417_150948418insCCCCTTCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948423_150948431dup , CM000669.2:g.150948423_150948431dup | GRCh38 |
| NC_000007.13:g.150645511_150645519dup , CM000669.1:g.150645511_150645519dup | GRCh37 |
| NC_000007.12:g.150276444_150276452dup | NCBI36 |
| NG_008916.1:g.34501_34509dup , LRG_288:g.34501_34509dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3525+18_3525+26dup | ||
| ENST00000262186.10:c.2692+18_2692+26dup MANE Select | ENSP00000262186.5:n.2692+18_2692+26dup | |
| ENST00000330883.9:c.1672+18_1672+26dup | ENSP00000328531.4:n.1672+18_1672+26dup | |
| ENST00000262186.9:c.2692+18_2692+26dup | ENSP00000262186.5:n.2692+18_2692+26dup | |
| ENST00000330883.8:c.1672+18_1672+26dup | ENSP00000328531.4:n.1672+18_1672+26dup | |
| NM_000238.3:c.2692+18_2692+26dup , LRG_288t1:c.2692+18_2692+26dup | NP_000229.1:n.2692+18_2692+26dup | |
| NM_172057.2:c.1672+18_1672+26dup , LRG_288t3:c.1672+18_1672+26dup | NP_742054.1:n.1672+18_1672+26dup | |
| XM_011516185.1:c.2392+18_2392+26dup | XP_011514487.1:n.2392+18_2392+26dup | |
| XM_011516186.1:c.2692+18_2692+26dup | XP_011514488.1:n.2692+18_2692+26dup | |
| XM_011516185.2:c.2392+18_2392+26dup | XP_011514487.1:n.2392+18_2392+26dup | |
| XM_011516186.3:c.2692+18_2692+26dup | XP_011514488.1:n.2692+18_2692+26dup | |
| XM_017012195.1:c.2542+18_2542+26dup | XP_016867684.1:n.2542+18_2542+26dup | |
| XM_017012196.1:c.2515+18_2515+26dup | XP_016867685.1:n.2515+18_2515+26dup | |
| NM_000238.4:c.2692+18_2692+26dup MANE Select | NP_000229.1:n.2692+18_2692+26dup | |
| NM_172057.3:c.1672+18_1672+26dup | NP_742054.1:n.1672+18_1672+26dup |