Linked Data
ClinVar Variation Id:
16965
ClinVar RCV Id:
RCV000018478
dbSNP Id:
rs121912971
MyVariant Identifiers:
chr5:g.174151927_174151928delinsTA (hg19)
chr5:g.174724924_174724925delinsTA (hg38)
PubMed:
PMID:10767351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724924_174724925delinsTA , CM000667.2:g.174724924_174724925delinsTA | GRCh38 |
| NC_000005.9:g.174151927_174151928delinsTA , CM000667.1:g.174151927_174151928delinsTA | GRCh37 |
| NC_000005.8:g.174084533_174084534delinsTA | NCBI36 |
| NG_008124.1:g.5353_5354delinsTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000239243.7:c.265_266delinsTA MANE Select | ENSP00000239243.5:p.Ala89Ter | |
| ENST00000239243.6:c.265_266delinsTA | ENSP00000239243.5:p.Ala89Ter | |
| ENST00000507785.2:c.265_266delinsTA | ENSP00000427425.1:p.Ala89Ter | |
| NM_002449.4:c.265_266delinsTA | NP_002440.2:p.Ala89Ter | |
| NM_001363626.1:c.265_266delinsTA | NP_001350555.1:p.Ala89Ter | |
| NM_002449.5:c.265_266delinsTA MANE Select | NP_002440.2:p.Ala89Ter | |
| NM_001363626.2:c.265_266delinsTA | NP_001350555.1:p.Ala89Ter |