Linked Data
dbSNP Id:
rs748789747
gnomAD v3:
5-74721864-T-TAGGGAA
gnomAD v4:
5-74721864-T-TAGGGAA
MyVariant Identifiers:
chr5:g.74017689_74017690insAGGGAA (hg19)
chr5:g.74721864_74721865insAGGGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74721866_74721871dup , CM000667.2:g.74721866_74721871dup | GRCh38 |
| NC_000005.9:g.74017691_74017696dup , CM000667.1:g.74017691_74017696dup | GRCh37 |
| NC_000005.8:g.74053447_74053452dup | NCBI36 |
| NG_009770.1:g.41723_41728dup | |
| NG_011531.1:g.50348_50353dup | |
| NG_009770.2:g.86844_86849dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2212-87_2212-82dup (GFM2) MANE Select | ENSP00000296805.3:n.2212-87_2212-82dup | |
| ENST00000296805.7:c.2212-87_2212-82dup (GFM2) | ENSP00000296805.3:n.2212-87_2212-82dup | |
| ENST00000345239.6:c.2071-87_2071-82dup (GFM2) | ENSP00000296804.3:n.2071-87_2071-82dup | |
| ENST00000503312.5:c.608+430_608+435dup (HEXB) | ||
| ENST00000505859.1:c.255+430_256-428dup (HEXB) | ||
| ENST00000509430.5:c.2212-87_2212-82dup (GFM2) | ENSP00000427004.1:n.2212-87_2212-82dup | |
| ENST00000513867.1:n.380+430_381-428dup (HEXB) | ||
| ENST00000515125.5:n.615-87_615-82dup (GFM2) | ||
| NM_001281302.1:c.2308-87_2308-82dup (GFM2) | NP_001268231.1:n.2308-87_2308-82dup | |
| NM_032380.4:c.2212-87_2212-82dup (GFM2) | NP_115756.2:n.2212-87_2212-82dup | |
| NM_170691.2:c.2071-87_2071-82dup (GFM2) | NP_733792.1:n.2071-87_2071-82dup | |
| NR_104006.1:n.2531-87_2531-82dup (GFM2) | ||
| XM_006714721.2:c.2077-87_2077-82dup (GFM2) | XP_006714784.1:n.2077-87_2077-82dup | |
| XM_011543690.1:c.2212-87_2212-82dup (GFM2) | XP_011541992.1:n.2212-87_2212-82dup | |
| XM_017009986.1:c.2212-87_2212-82dup (GFM2) | XP_016865475.1:n.2212-87_2212-82dup | |
| XR_002956185.1:n.3498-87_3498-82dup (GFM2) | ||
| NM_032380.5:c.2212-87_2212-82dup (GFM2) MANE Select | NP_115756.2:n.2212-87_2212-82dup | |
| NM_001281302.2:c.2308-87_2308-82dup (GFM2) | NP_001268231.1:n.2308-87_2308-82dup | |
| NM_170691.3:c.2071-87_2071-82dup (GFM2) | NP_733792.1:n.2071-87_2071-82dup | |
| NR_104006.2:n.2277-87_2277-82dup (GFM2) |