Linked Data
dbSNP Id:
rs1442380034
gnomAD v2:
18-13885239-C-CTTG
MyVariant Identifiers:
chr18:g.13885239_13885240insTTG (hg19)
chr18:g.13885240_13885241insTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13885241_13885243dup , CM000680.2:g.13885241_13885243dup | GRCh38 |
| NC_000018.9:g.13885240_13885242dup , CM000680.1:g.13885240_13885242dup | GRCh37 |
| NC_000018.8:g.13875240_13875242dup | NCBI36 |
| NG_011819.1:g.35294_35296dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.276_278dup MANE Select | ENSP00000333821.2:p.Leu92_Lys93insAsn | |
| ENST00000327606.3:c.276_278dup | ENSP00000333821.2:p.Leu92_Lys93insAsn | |
| ENST00000399821.2:c.276_278dup | ENSP00000382718.2:p.Leu92_Lys93insAsn | |
| NM_000529.2:c.276_278dup MANE Select | NP_000520.1:p.Leu92_Lys93insAsn | |
| NM_001291911.1:c.276_278dup | NP_001278840.1:p.Leu92_Lys93insAsn | |
| XM_017025781.1:c.276_278dup | XP_016881270.1:p.Leu92_Lys93insAsn |