Linked Data
dbSNP Id:
rs1565833865
gnomAD v2:
12-6132971-G-GGTGGCCCAGGCCT
gnomAD v4:
12-6023805-G-GGTGGCCCAGGCCT
MyVariant Identifiers:
chr12:g.6132971_6132972insGTGGCCCAGGCCT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023806_6023818dup , CM000674.2:g.6023806_6023818dup | GRCh38 |
| NC_000012.11:g.6132972_6132984dup , CM000674.1:g.6132972_6132984dup | GRCh37 |
| NC_000012.10:g.6003233_6003245dup | NCBI36 |
| NG_009072.1:g.105853_105865dup | |
| NG_009072.2:g.105853_105865dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3223-31_3223-19dup MANE Select | ENSP00000261405.5:n.3223-31_3223-19dup | |
| ENST00000261405.9:c.3223-31_3223-19dup | ENSP00000261405.5:n.3223-31_3223-19dup | |
| ENST00000538635.5:n.421-29884_421-29872dup | ||
| NM_000552.3:c.3223-31_3223-19dup | NP_000543.2:n.3223-31_3223-19dup | |
| NM_000552.4:c.3223-31_3223-19dup | NP_000543.2:n.3223-31_3223-19dup | |
| NM_000552.5:c.3223-31_3223-19dup MANE Select | NP_000543.3:n.3223-31_3223-19dup |