Linked Data
ClinVar Variation Id:
558642
dbSNP Id:
rs1554372561
MyVariant Identifiers:
chr7:g.92506309_92506310dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506310_92506311dup , CM000669.2:g.92506310_92506311dup | GRCh38 |
| NC_000007.13:g.92135624_92135625dup , CM000669.1:g.92135624_92135625dup | GRCh37 |
| NC_000007.12:g.91973560_91973561dup | NCBI36 |
| NG_008341.1:g.27222_27223dup | |
| NG_008341.2:g.27222_27223dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1838_1839dup MANE Select | ENSP00000248633.4:p.Lys614ValfsTer? | |
| ENST00000248633.8:c.1838_1839dup | ENSP00000248633.4:p.Lys614ValfsTer? | |
| ENST00000422866.1:c.656_657dup | ||
| ENST00000428214.5:c.1838_1839dup | ENSP00000394413.1:p.Lys614ValfsTer23 | |
| ENST00000438045.5:c.872_873dup | ENSP00000410438.1:p.Lys292ValfsTer? | |
| ENST00000484913.5:n.1877_1878dup | ||
| ENST00000496420.5:n.1514_1515dup | ||
| NM_000466.2:c.1838_1839dup | NP_000457.1:p.Lys614ValfsTer? | |
| NM_001282677.1:c.1838_1839dup | NP_001269606.1:p.Lys614ValfsTer23 | |
| NM_001282678.1:c.1214_1215dup | NP_001269607.1:p.Lys406ValfsTer? | |
| XM_005250433.3:c.89_90dup | XP_005250490.1:p.Lys31ValfsTer? | |
| XR_242246.3:n.1934_1935dup | ||
| XM_017012319.2:c.89_90dup | XP_016867808.1:p.Lys31ValfsTer? | |
| XR_001744808.2:n.865_866dup | ||
| XR_242246.5:n.1885_1886dup | ||
| NM_000466.3:c.1838_1839dup MANE Select | NP_000457.1:p.Lys614ValfsTer? | |
| NM_001282677.2:c.1838_1839dup | NP_001269606.1:p.Lys614ValfsTer23 | |
| NM_001282678.2:c.1214_1215dup | NP_001269607.1:p.Lys406ValfsTer? |