Linked Data
dbSNP Id:
rs750238627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117052_19117060dup , CM000669.2:g.19117052_19117060dup | GRCh38 |
| NC_000007.13:g.19156675_19156683dup , CM000669.1:g.19156675_19156683dup | GRCh37 |
| NC_000007.12:g.19123200_19123208dup | NCBI36 |
| NG_008114.1:g.5619_5627dup | |
| NG_008114.2:g.5619_5627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.268_276dup MANE Select | ENSP00000242261.5:p.Gly92_Ser93insGlyGlyGly | |
| ENST00000242261.5:c.268_276dup | ENSP00000242261.5:p.Gly92_Ser93insGlyGlyGly | |
| ENST00000354571.5:c.65_73dup | ||
| NM_000474.3:c.268_276dup | NP_000465.1:p.Gly92_Ser93insGlyGlyGly | |
| XM_011515496.1:c.268_276dup | XP_011513798.1:p.Gly92_Ser93insGlyGlyGly | |
| NR_149001.1:n.619_627dup | ||
| NM_000474.4:c.268_276dup MANE Select | NP_000465.1:p.Gly92_Ser93insGlyGlyGly | |
| NR_149001.2:n.583_591dup |