Linked Data
dbSNP Id:
rs756966393
gnomAD v4:
5-74721780-A-AACCCTAATCAAAAT
MyVariant Identifiers:
chr5:g.74017605_74017606insACCCTAATCAAAAT (hg19)
chr5:g.74721780_74721781insACCCTAATCAAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74721782_74721795dup , CM000667.2:g.74721782_74721795dup | GRCh38 |
| NC_000005.9:g.74017607_74017620dup , CM000667.1:g.74017607_74017620dup | GRCh37 |
| NC_000005.8:g.74053363_74053376dup | NCBI36 |
| NG_009770.1:g.41639_41652dup | |
| NG_011531.1:g.50424_50437dup | |
| NG_009770.2:g.86760_86773dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2212-11_2214dup (GFM2) | ||
| ENST00000296805.7:c.2212-11_2214dup (GFM2) | ||
| ENST00000345239.6:c.2071-11_2073dup (GFM2) | ||
| ENST00000503312.5:c.608+346_608+359dup (HEXB) | ||
| ENST00000505859.1:c.255+346_255+359dup (HEXB) | ||
| ENST00000509430.5:c.2212-11_2214dup (GFM2) | ||
| ENST00000513867.1:n.380+346_380+359dup (HEXB) | ||
| ENST00000515125.5:n.615-11_617dup (GFM2) | ||
| NM_001281302.1:c.2308-11_2310dup (GFM2) | ||
| NM_032380.4:c.2212-11_2214dup (GFM2) | ||
| NM_170691.2:c.2071-11_2073dup (GFM2) | ||
| NR_104006.1:n.2531-11_2533dup (GFM2) | ||
| XM_006714721.2:c.2077-11_2079dup (GFM2) | ||
| XM_011543690.1:c.2212-11_2214dup (GFM2) | ||
| XM_017009986.1:c.2212-11_2214dup (GFM2) | ||
| XR_002956185.1:n.3498-11_3500dup (GFM2) | ||
| NM_032380.5:c.2212-11_2214dup (GFM2) | ||
| NM_001281302.2:c.2308-11_2310dup (GFM2) | ||
| NM_170691.3:c.2071-11_2073dup (GFM2) | ||
| NR_104006.2:n.2277-11_2279dup (GFM2) |