Linked Data
ClinVar Variation Id:
93102
dbSNP Id:
rs398123408
gnomAD v2:
7-92134156-A-ATCCACACTG
gnomAD v3:
7-92504842-A-ATCCACACTG
gnomAD v4:
7-92504842-A-ATCCACACTG
MyVariant Identifiers:
chr7:g.92134157_92134165dup (hg19)
chr7:g.92134157_92134165dupTCCACACTG (hg19)
chr7:g.92134156_92134157insTCCACACTG (hg19)
chr7:g.92504843_92504851dupTCCACACTG (hg38)
chr7:g.92504842_92504843insTCCACACTG (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504843_92504851dup , CM000669.2:g.92504843_92504851dup | GRCh38 |
| NC_000007.13:g.92134157_92134165dup , CM000669.1:g.92134157_92134165dup | GRCh37 |
| NC_000007.12:g.91972093_91972101dup | NCBI36 |
| NG_008341.1:g.28681_28689dup | |
| NG_008341.2:g.28681_28689dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1952_1960dup MANE Select | ENSP00000248633.4:p.Trp653_Met654insThrVa... | |
| ENST00000248633.8:c.1952_1960dup | ENSP00000248633.4:p.Trp653_Met654insThrVa... | |
| ENST00000428214.5:c.1900+1397_1900+1405dup | ENSP00000394413.1:n.1900+1397_1900+1405du... | |
| ENST00000438045.5:c.986_994dup | ENSP00000410438.1:p.Trp331_Met332insThrVa... | |
| ENST00000484913.5:n.1991_1999dup | ||
| ENST00000496420.5:n.1628_1636dup | ||
| NM_000466.2:c.1952_1960dup | NP_000457.1:p.Trp653_Met654insThrValTrp | |
| NM_001282677.1:c.1900+1397_1900+1405dup | NP_001269606.1:n.1900+1397_1900+1405dup | |
| NM_001282678.1:c.1328_1336dup | NP_001269607.1:p.Trp445_Met446insThrValTr... | |
| XM_005250433.3:c.203_211dup | XP_005250490.1:p.Trp70_Met71insThrValTrp | |
| XR_242246.3:n.2048_2056dup | ||
| XM_017012319.2:c.203_211dup | XP_016867808.1:p.Trp70_Met71insThrValTrp | |
| XR_001744808.2:n.979_987dup | ||
| XR_242246.5:n.1999_2007dup | ||
| NM_000466.3:c.1952_1960dup MANE Select | NP_000457.1:p.Trp653_Met654insThrValTrp | |
| NM_001282677.2:c.1900+1397_1900+1405dup | NP_001269606.1:n.1900+1397_1900+1405dup | |
| NM_001282678.2:c.1328_1336dup | NP_001269607.1:p.Trp445_Met446insThrValTr... |