Linked Data
ClinVar Variation Id:
987349
ClinVar RCV Id:
RCV001268688
dbSNP Id:
rs755218835
gnomAD v2:
1-216420015-T-TGTCCCCAAGGA
gnomAD v4:
1-216246673-T-TGTCCCCAAGGA
MyVariant Identifiers:
chr1:g.216420015_216420016insGTCCCCAAGGA (hg19)
chr1:g.216246673_216246674insGTCCCCAAGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246674_216246684dup , CM000663.2:g.216246674_216246684dup | GRCh38 |
| NC_000001.10:g.216420016_216420026dup , CM000663.1:g.216420016_216420026dup | GRCh37 |
| NC_000001.9:g.214486639_214486649dup | NCBI36 |
| NG_009497.1:g.181713_181723dup | |
| NG_009497.2:g.181765_181775dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2710_2720dup MANE Select | ENSP00000305941.3:p.Leu908ProfsTer? | |
| ENST00000674083.1:c.2710_2720dup | ENSP00000501296.1:p.Leu908ProfsTer? | |
| ENST00000307340.7:c.2710_2720dup | ENSP00000305941.3:p.Leu908ProfsTer? | |
| ENST00000366942.3:c.2710_2720dup | ENSP00000355909.3:p.Leu908ProfsTer? | |
| NM_007123.5:c.2710_2720dup | NP_009054.5:p.Leu908ProfsTer? | |
| NM_206933.2:c.2710_2720dup | NP_996816.2:p.Leu908ProfsTer? | |
| NM_206933.3:c.2710_2720dup | NP_996816.2:p.Leu908ProfsTer? | |
| NM_007123.6:c.2710_2720dup | NP_009054.6:p.Leu908ProfsTer? | |
| NM_206933.4:c.2710_2720dup MANE Select | NP_996816.3:p.Leu908ProfsTer? |