Linked Data
dbSNP Id:
rs1276731672
gnomAD v2:
14-103389026-A-ATGGGCGTCC
gnomAD v4:
14-102922689-A-ATGGGCGTCC
MyVariant Identifiers:
chr14:g.103389026_103389027insTGGGCGTCC (hg19)
chr14:g.102922689_102922690insTGGGCGTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922695_102922703dup , CM000676.2:g.102922695_102922703dup | GRCh38 |
| NC_000014.8:g.103389032_103389040dup , CM000676.1:g.103389032_103389040dup | GRCh37 |
| NC_000014.7:g.102458785_102458793dup | NCBI36 |
| NG_008276.2:g.5040_5048dup , LRG_642:g.5040_5048dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.7_15dup MANE Select | ENSP00000299155.6:p.Gly5_Arg6insValLeuGly | |
| ENST00000299155.9:c.7_15dup | ENSP00000299155.5:p.Gly5_Arg6insValLeuGly | |
| NM_030943.3:c.7_15dup , LRG_642t1:c.7_15dup | NP_112205.2:p.Gly5_Arg6insValLeuGly | |
| XM_011537202.1:c.-175_-167dup | XP_011535504.1:n.-175_-167dup | |
| XM_011537202.3:c.-175_-167dup | XP_011535504.1:n.-175_-167dup | |
| XM_024449714.1:c.103_111dup | XP_024305482.1:p.Gly37_Arg38insValLeuGly | |
| NM_030943.4:c.7_15dup MANE Select | NP_112205.2:p.Gly5_Arg6insValLeuGly |