Linked Data
gnomAD v4:
4-40354315-A-ACTTTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354315_40354316insCTTTG , CM000666.2:g.40354315_40354316insCTTTG | GRCh38 |
| NC_000004.11:g.40356332_40356333insCTTTG , CM000666.1:g.40356332_40356333insCTTTG | GRCh37 |
| NC_000004.10:g.40051089_40051090insCTTTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310169.3:c.1235_1236insCTTTG MANE Select | ENSP00000312663.2:p.Gln412HisfsTer15 | |
| ENST00000310169.2:c.1235_1236insCTTTG | ENSP00000312663.2:p.Gln412HisfsTer15 | |
| NM_017581.3:c.1235_1236insCTTTG | NP_060051.2:p.Gln412HisfsTer15 | |
| NM_017581.4:c.1235_1236insCTTTG MANE Select | NP_060051.2:p.Gln412HisfsTer15 |