Linked Data
dbSNP Id:
rs1468792345
gnomAD v2:
5-54528911-G-GAGAGA
gnomAD v3:
5-55233083-G-GAGAGA
gnomAD v4:
5-55233083-G-GAGAGA
MyVariant Identifiers:
chr5:g.54528911_54528912insAGAGA (hg19)
chr5:g.55233083_55233084insAGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233084_55233088dup , CM000667.2:g.55233084_55233088dup | GRCh38 |
| NC_000005.9:g.54528912_54528916dup , CM000667.1:g.54528912_54528916dup | GRCh37 |
| NC_000005.8:g.54564669_54564673dup | NCBI36 |
| NG_034201.1:g.5630_5634dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+55_381+59dup MANE Select | ENSP00000282572.4:n.381+55_381+59dup | |
| ENST00000282572.4:c.381+55_381+59dup | ENSP00000282572.4:n.381+55_381+59dup | |
| ENST00000501463.2:c.*40_*44dup | ENSP00000422485.1:n.*40_*44dup | |
| NM_021147.4:c.381+55_381+59dup | NP_066970.3:n.381+55_381+59dup | |
| NR_125346.1:n.630_634dup | ||
| NR_125347.1:n.580+50_580+54dup | ||
| NM_021147.5:c.381+55_381+59dup MANE Select | NP_066970.3:n.381+55_381+59dup | |
| NR_125346.2:n.521_525dup | ||
| NR_125347.2:n.471+50_471+54dup |