Linked Data
dbSNP Id:
rs1349154934
gnomAD v3:
10-104034128-C-CGCCTGCACCCAGGGA
gnomAD v4:
10-104034128-C-CGCCTGCACCCAGGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034138_104034152dup , CM000672.2:g.104034138_104034152dup | GRCh38 |
| NC_000010.10:g.105793896_105793910dup , CM000672.1:g.105793896_105793910dup | GRCh37 |
| NC_000010.9:g.105783886_105783900dup | NCBI36 |
| NG_007069.1:g.56738_56752dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3712_3726dup | ENSP00000358748.3:p.Gly1242_Gly1243insSerLeuGlyAlaGly | |
| ENST00000648076.2:c.3958_3972dup MANE Select | ENSP00000497653.1:p.Gly1324_Gly1325insSerLeuGlyAlaGly | |
| ENST00000353479.9:c.3958_3972dup | ENSP00000340937.5:p.Gly1324_Gly1325insSerLeuGlyAlaGly | |
| ENST00000369733.7:c.3712_3726dup | ENSP00000358748.3:p.Gly1242_Gly1243insSerLeuGlyAlaGly | |
| NM_000494.3:c.3958_3972dup | NP_000485.3:p.Gly1324_Gly1325insSerLeuGlyAlaGly | |
| NM_000494.4:c.3958_3972dup MANE Select | NP_000485.3:p.Gly1324_Gly1325insSerLeuGlyAlaGly |