Linked Data
dbSNP Id:
rs1314258083
gnomAD v2:
11-69463010-T-TGACA
gnomAD v3:
11-69648242-T-TGACA
gnomAD v4:
11-69648242-T-TGACA
MyVariant Identifiers:
chr11:g.69463010_69463011insGACA (hg19)
chr11:g.69648242_69648243insGACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648243_69648246dup , CM000673.2:g.69648243_69648246dup | GRCh38 |
| NC_000011.9:g.69463011_69463014dup , CM000673.1:g.69463011_69463014dup | GRCh37 |
| NC_000011.8:g.69172192_69172195dup | NCBI36 |
| NG_007375.1:g.12139_12142dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+101_723+104dup MANE Select | ENSP00000227507.2:n.723+101_723+104dup | |
| ENST00000227507.2:c.723+101_723+104dup | ENSP00000227507.2:n.723+101_723+104dup | |
| ENST00000542367.1:n.186+101_186+104dup | ||
| NM_053056.2:c.723+101_723+104dup | NP_444284.1:n.723+101_723+104dup | |
| XM_006718653.2:c.747+101_747+104dup | XP_006718716.1:n.747+101_747+104dup | |
| NM_053056.3:c.723+101_723+104dup MANE Select | NP_444284.1:n.723+101_723+104dup |