Linked Data
dbSNP Id:
rs747436240
ExAC:
14:91772158 A / AAGGCGC
gnomAD v2:
14-91772158-A-AAGGCGC
gnomAD v3:
14-91305814-A-AAGGCGC
gnomAD v4:
14-91305814-A-AAGGCGC
MyVariant Identifiers:
chr14:g.91772158_91772159insAGGCGC (hg19)
chr14:g.91305814_91305815insAGGCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91305815_91305820dup , CM000676.2:g.91305815_91305820dup | GRCh38 |
| NC_000014.8:g.91772159_91772164dup , CM000676.1:g.91772159_91772164dup | GRCh37 |
| NC_000014.7:g.90841912_90841917dup | NCBI36 |
| NG_033118.1:g.117025_117030dup | |
| NG_033118.2:g.117025_117030dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.3302_3307dup MANE Select | ENSP00000374507.6:p.Ala1102_Phe1103insCysAla | |
| ENST00000389857.10:c.3302_3307dup | ENSP00000374507.6:p.Ala1102_Phe1103insCysAla | |
| NM_001080414.3:c.3302_3307dup | NP_001073883.2:p.Ala1102_Phe1103insCysAla | |
| XM_005267691.3:c.3302_3307dup | XP_005267748.1:p.Ala1102_Phe1103insCysAla | |
| XM_011536796.1:c.3194_3199dup | XP_011535098.1:p.Ala1066_Phe1067insCysAla | |
| XR_429316.2:n.3430_3435dup | ||
| XR_943459.1:n.3430_3435dup | ||
| XM_005267691.5:c.3302_3307dup | XP_005267748.1:p.Ala1102_Phe1103insCysAla | |
| XM_011536796.2:c.3194_3199dup | XP_011535098.1:p.Ala1066_Phe1067insCysAla | |
| XM_017021335.2:c.3302_3307dup | XP_016876824.1:p.Ala1102_Phe1103insCysAla | |
| XM_017021336.1:c.383_388dup | XP_016876825.1:p.Ala129_Phe130insCysAla | |
| XR_429316.4:n.3428_3433dup | ||
| NM_001080414.4:c.3302_3307dup MANE Select | NP_001073883.2:p.Ala1102_Phe1103insCysAla |