Linked Data
dbSNP Id:
rs1329420576
gnomAD v3:
5-44305667-C-CACATTCAT
gnomAD v4:
5-44305667-C-CACATTCAT
MyVariant Identifiers:
chr5:g.44305769_44305770insACATTCAT (hg19)
chr5:g.44305667_44305668insACATTCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305669_44305676dup , CM000667.2:g.44305669_44305676dup | GRCh38 |
| NC_000005.9:g.44305771_44305778dup , CM000667.1:g.44305771_44305778dup | GRCh37 |
| NC_000005.8:g.44341528_44341535dup | NCBI36 |
| NG_011446.1:g.88008_88015dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264664.5:c.430-483_430-476dup MANE Select | ENSP00000264664.4:n.430-483_430-476dup | |
| ENST00000264664.4:c.430-483_430-476dup | ENSP00000264664.4:n.430-483_430-476dup | |
| NM_004465.1:c.430-483_430-476dup | NP_004456.1:n.430-483_430-476dup | |
| XM_005248264.2:c.430-483_430-476dup | XP_005248321.1:n.430-483_430-476dup | |
| XM_005248264.4:c.430-483_430-476dup | XP_005248321.1:n.430-483_430-476dup | |
| NM_004465.2:c.430-483_430-476dup MANE Select | NP_004456.1:n.430-483_430-476dup |