Linked Data
dbSNP Id:
rs764950060
ExAC:
5:74017611 AAT / A
gnomAD v2:
5-74017611-AAT-A
gnomAD v4:
5-74721786-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74721787_74721788del , CM000667.2:g.74721787_74721788del | GRCh38 |
| NC_000005.9:g.74017612_74017613del , CM000667.1:g.74017612_74017613del | GRCh37 |
| NC_000005.8:g.74053368_74053369del | NCBI36 |
| NG_009770.1:g.41644_41645del | |
| NG_011531.1:g.50430_50431del | |
| NG_009770.2:g.86765_86766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2212-5_2212-4del (GFM2) MANE Select | ENSP00000296805.3:n.2212-5_2212-4del | |
| ENST00000296805.7:c.2212-5_2212-4del (GFM2) | ENSP00000296805.3:n.2212-5_2212-4del | |
| ENST00000345239.6:c.2071-5_2071-4del (GFM2) | ENSP00000296804.3:n.2071-5_2071-4del | |
| ENST00000503312.5:c.608+351_608+352del (HEXB) | ||
| ENST00000505859.1:c.255+351_255+352del (HEXB) | ||
| ENST00000509430.5:c.2212-5_2212-4del (GFM2) | ENSP00000427004.1:n.2212-5_2212-4del | |
| ENST00000513867.1:n.380+351_380+352del (HEXB) | ||
| ENST00000515125.5:n.615-5_615-4del (GFM2) | ||
| NM_001281302.1:c.2308-5_2308-4del (GFM2) | NP_001268231.1:n.2308-5_2308-4del | |
| NM_032380.4:c.2212-5_2212-4del (GFM2) | NP_115756.2:n.2212-5_2212-4del | |
| NM_170691.2:c.2071-5_2071-4del (GFM2) | NP_733792.1:n.2071-5_2071-4del | |
| NR_104006.1:n.2531-5_2531-4del (GFM2) | ||
| XM_006714721.2:c.2077-5_2077-4del (GFM2) | XP_006714784.1:n.2077-5_2077-4del | |
| XM_011543690.1:c.2212-5_2212-4del (GFM2) | XP_011541992.1:n.2212-5_2212-4del | |
| XM_017009986.1:c.2212-5_2212-4del (GFM2) | XP_016865475.1:n.2212-5_2212-4del | |
| XR_002956185.1:n.3498-5_3498-4del (GFM2) | ||
| NM_032380.5:c.2212-5_2212-4del (GFM2) MANE Select | NP_115756.2:n.2212-5_2212-4del | |
| NM_001281302.2:c.2308-5_2308-4del (GFM2) | NP_001268231.1:n.2308-5_2308-4del | |
| NM_170691.3:c.2071-5_2071-4del (GFM2) | NP_733792.1:n.2071-5_2071-4del | |
| NR_104006.2:n.2277-5_2277-4del (GFM2) |