Linked Data
ClinVar Variation Id:
2232090
ClinVar RCV Id:
RCV002723105
dbSNP Id:
rs1018819886
gnomAD v2:
5-177419913-G-GTGC
gnomAD v3:
5-177992912-G-GTGC
gnomAD v4:
5-177992912-G-GTGC
MyVariant Identifiers:
chr5:g.177419913_177419914insTGC (hg19)
chr5:g.177992912_177992913insTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992916_177992918dup , CM000667.2:g.177992916_177992918dup | GRCh38 |
| NC_000005.9:g.177419917_177419919dup , CM000667.1:g.177419917_177419919dup | GRCh37 |
| NC_000005.8:g.177352523_177352525dup | NCBI36 |
| NG_015889.1:g.8328_8330dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.475_477dup MANE Select | ENSP00000311290.2:p.Ala159_Pro160insAla | |
| NM_006261.4:c.475_477dup | NP_006252.3:p.Ala159_Pro160insAla | |
| NM_006261.5:c.475_477dup MANE Select | NP_006252.4:p.Ala159_Pro160insAla |