Linked Data
dbSNP Id:
rs1568263826
gnomAD v2:
19-4117555-T-TTC
MyVariant Identifiers:
chr19:g.4117555_4117556insTC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117558_4117559dup , CM000681.2:g.4117558_4117559dup | GRCh38 |
| NC_000019.9:g.4117556_4117557dup , CM000681.1:g.4117556_4117557dup | GRCh37 |
| NC_000019.8:g.4068556_4068557dup | NCBI36 |
| NG_007996.1:g.11570_11571dup , LRG_750:g.11570_11571dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.602_603dup | ||
| ENST00000687128.1:n.602_603dup | ||
| ENST00000262948.10:c.163_164dup MANE Select | ENSP00000262948.4:p.Ala56LysfsTer? | |
| ENST00000262948.9:c.163_164dup | ENSP00000262948.3:p.Ala56LysfsTer? | |
| ENST00000394867.8:c.-129_-128dup | ENSP00000378336.1:n.-129_-128dup | |
| ENST00000599345.1:n.360_361dup | ||
| NM_030662.3:c.163_164dup , LRG_750t1:c.163_164dup | NP_109587.1:p.Ala56LysfsTer? | |
| XM_006722799.2:c.163_164dup | XP_006722862.1:p.Ala56LysfsTer? | |
| XM_017026989.1:c.163_164dup | XP_016882478.1:p.Ala56LysfsTer? | |
| XM_017026990.1:c.163_164dup | XP_016882479.1:p.Ala56LysfsTer? | |
| XM_017026991.1:c.163_164dup | XP_016882480.1:p.Ala56LysfsTer? | |
| NM_030662.4:c.163_164dup MANE Select | NP_109587.1:p.Ala56LysfsTer? |