Linked Data
dbSNP Id:
rs1216754854
gnomAD v2:
13-20763237-A-AGAAGC
gnomAD v4:
13-20189098-A-AGAAGC
MyVariant Identifiers:
chr13:g.20763237_20763238insGAAGC (hg19)
chr13:g.20189098_20189099insGAAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189099_20189103dup , CM000675.2:g.20189099_20189103dup | GRCh38 |
| NC_000013.10:g.20763238_20763242dup , CM000675.1:g.20763238_20763242dup | GRCh37 |
| NC_000013.9:g.19661238_19661242dup | NCBI36 |
| NG_008358.1:g.8873_8877dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.479_483dup | ENSP00000372295.1:p.Ser162AlafsTer8 | |
| ENST00000382848.5:c.479_483dup MANE Select | ENSP00000372299.4:p.Ser162AlafsTer8 | |
| ENST00000382844.1:c.479_483dup | ENSP00000372295.1:p.Ser162AlafsTer8 | |
| ENST00000382848.4:c.479_483dup | ENSP00000372299.4:p.Ser162AlafsTer8 | |
| NM_004004.5:c.479_483dup | NP_003995.2:p.Ser162AlafsTer8 | |
| XM_011535049.1:c.479_483dup | XP_011533351.1:p.Ser162AlafsTer8 | |
| XM_011535049.2:c.479_483dup | XP_011533351.1:p.Ser162AlafsTer8 | |
| NM_004004.6:c.479_483dup MANE Select | NP_003995.2:p.Ser162AlafsTer8 |