Linked Data
dbSNP Id:
rs747922421
ExAC:
7:65552823 T / TCCTTCAGC
gnomAD v2:
7-65552823-T-TCCTTCAGC
gnomAD v3:
7-66087836-T-TCCTTCAGC
gnomAD v4:
7-66087836-T-TCCTTCAGC
MyVariant Identifiers:
chr7:g.65552823_65552824insCCTTCAGC (hg19)
chr7:g.66087836_66087837insCCTTCAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66087839_66087846dup , CM000669.2:g.66087839_66087846dup | GRCh38 |
| NC_000007.13:g.65552826_65552833dup , CM000669.1:g.65552826_65552833dup | GRCh37 |
| NC_000007.12:g.65190261_65190268dup | NCBI36 |
| NG_009288.1:g.17051_17058dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.718+48_718+55dup MANE Select | ENSP00000307188.9:n.718+48_718+55dup | |
| ENST00000362000.10:c.523+48_523+55dup | ENSP00000354710.6:n.523+48_523+55dup | |
| ENST00000380839.9:c.640+48_640+55dup | ENSP00000370219.4:n.640+48_640+55dup | |
| ENST00000395331.4:c.718+48_718+55dup | ENSP00000378740.3:n.718+48_718+55dup | |
| ENST00000395332.8:c.718+48_718+55dup | ENSP00000378741.3:n.718+48_718+55dup | |
| ENST00000671817.1:c.640+48_640+55dup | ENSP00000500462.1:n.640+48_640+55dup | |
| ENST00000672498.1:c.*17+48_*17+55dup | ENSP00000500227.1:n.*17+48_*17+55dup | |
| ENST00000672586.1:n.1477+48_1477+55dup | ||
| ENST00000672676.1:n.1742+48_1742+55dup | ||
| ENST00000673149.1:n.530+48_530+55dup | ||
| ENST00000673350.1:n.1868_1875dup | ||
| ENST00000673518.1:c.640+48_640+55dup | ENSP00000499889.1:n.640+48_640+55dup | |
| ENST00000304874.13:c.718+48_718+55dup | ENSP00000307188.9:n.718+48_718+55dup | |
| ENST00000362000.9:c.523+48_523+55dup | ENSP00000354710.5:n.523+48_523+55dup | |
| ENST00000380839.8:c.640+48_640+55dup | ENSP00000370219.4:n.640+48_640+55dup | |
| ENST00000395331.3:c.718+48_718+55dup | ENSP00000378740.3:n.718+48_718+55dup | |
| ENST00000395332.7:c.718+48_718+55dup | ENSP00000378741.3:n.718+48_718+55dup | |
| ENST00000450043.2:c.31+48_31+55dup | ENSP00000396527.2:n.31+48_31+55dup | |
| ENST00000493708.5:n.99+48_99+55dup | ||
| NM_000048.3:c.718+48_718+55dup | NP_000039.2:n.718+48_718+55dup | |
| NM_001024943.1:c.718+48_718+55dup | NP_001020114.1:n.718+48_718+55dup | |
| NM_001024944.1:c.718+48_718+55dup | NP_001020115.1:n.718+48_718+55dup | |
| NM_001024946.1:c.640+48_640+55dup | NP_001020117.1:n.640+48_640+55dup | |
| NM_000048.4:c.718+48_718+55dup MANE Select | NP_000039.2:n.718+48_718+55dup | |
| NM_001024943.2:c.718+48_718+55dup | NP_001020114.1:n.718+48_718+55dup | |
| NM_001024944.2:c.718+48_718+55dup | NP_001020115.1:n.718+48_718+55dup | |
| NM_001024946.2:c.640+48_640+55dup | NP_001020117.1:n.640+48_640+55dup |