Linked Data
dbSNP Id:
rs1327045938
gnomAD v2:
1-160100402-T-TCCTC
gnomAD v4:
1-160130612-T-TCCTC
MyVariant Identifiers:
chr1:g.160100402_160100403insCCTC (hg19)
chr1:g.160130612_160130613insCCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130615_160130618dup , CM000663.2:g.160130615_160130618dup | GRCh38 |
| NC_000001.10:g.160100405_160100408dup , CM000663.1:g.160100405_160100408dup | GRCh37 |
| NC_000001.9:g.158367029_158367032dup | NCBI36 |
| NG_008014.1:g.19858_19861dup , LRG_6:g.19858_19861dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1827+18_1827+21dup MANE Select | ENSP00000354490.3:n.1827+18_1827+21dup | |
| ENST00000361216.7:c.1827+18_1827+21dup | ENSP00000354490.3:n.1827+18_1827+21dup | |
| ENST00000392233.7:c.1827+18_1827+21dup | ENSP00000376066.3:n.1827+18_1827+21dup | |
| ENST00000447527.1:c.959+18_959+21dup | ||
| ENST00000472488.5:n.1930+18_1930+21dup | ||
| NM_000702.3:c.1827+18_1827+21dup | NP_000693.1:n.1827+18_1827+21dup | |
| NM_000702.4:c.1827+18_1827+21dup MANE Select | NP_000693.1:n.1827+18_1827+21dup |