Linked Data
ClinVar Variation Id:
371780
dbSNP Id:
rs1057517529
MyVariant Identifiers:
chr7:g.92134190_92134191delinsG (hg19)
chr7:g.92504876_92504877delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504876_92504877delinsG , CM000669.2:g.92504876_92504877delinsG | GRCh38 |
| NC_000007.13:g.92134190_92134191delinsG , CM000669.1:g.92134190_92134191delinsG | GRCh37 |
| NC_000007.12:g.91972126_91972127delinsG | NCBI36 |
| NG_008341.1:g.28655_28656delinsC | |
| NG_008341.2:g.28655_28656delinsC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1926_1927delinsC MANE Select | ENSP00000248633.4:p.Lys642AsnfsTer3 | |
| ENST00000248633.8:c.1926_1927delinsC | ENSP00000248633.4:p.Lys642AsnfsTer3 | |
| ENST00000428214.5:c.1900+1371_1900+1372delinsC | ENSP00000394413.1:n.1900+1371_1900+1372de... | |
| ENST00000438045.5:c.960_961delinsC | ENSP00000410438.1:p.Lys320AsnfsTer3 | |
| ENST00000484913.5:n.1965_1966delinsC | ||
| ENST00000496420.5:n.1602_1603delinsC | ||
| NM_000466.2:c.1926_1927delinsC | NP_000457.1:p.Lys642AsnfsTer3 | |
| NM_001282677.1:c.1900+1371_1900+1372delinsC | NP_001269606.1:n.1900+1371_1900+1372delin... | |
| NM_001282678.1:c.1302_1303delinsC | NP_001269607.1:p.Lys434AsnfsTer3 | |
| XM_005250433.3:c.177_178delinsC | XP_005250490.1:p.Lys59AsnfsTer3 | |
| XR_242246.3:n.2022_2023delinsC | ||
| XM_017012319.2:c.177_178delinsC | XP_016867808.1:p.Lys59AsnfsTer3 | |
| XR_001744808.2:n.953_954delinsC | ||
| XR_242246.5:n.1973_1974delinsC | ||
| NM_000466.3:c.1926_1927delinsC MANE Select | NP_000457.1:p.Lys642AsnfsTer3 | |
| NM_001282677.2:c.1900+1371_1900+1372delinsC | NP_001269606.1:n.1900+1371_1900+1372delin... | |
| NM_001282678.2:c.1302_1303delinsC | NP_001269607.1:p.Lys434AsnfsTer3 |