Linked Data
dbSNP Id:
rs762000920
ExAC:
14:21780655 C / CTCT
gnomAD v2:
14-21780655-C-CTCT
gnomAD v3:
14-21312496-C-CTCT
gnomAD v4:
14-21312496-C-CTCT
MyVariant Identifiers:
chr14:g.21780655_21780656insTCT (hg19)
chr14:g.21312496_21312497insTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312498_21312500dup , CM000676.2:g.21312498_21312500dup | GRCh38 |
| NC_000014.8:g.21780657_21780659dup , CM000676.1:g.21780657_21780659dup | GRCh37 |
| NC_000014.7:g.20850497_20850499dup | NCBI36 |
| NG_008933.1:g.29522_29524dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1143_1145dup MANE Select | ENSP00000382895.2:p.Leu381_Leu382insPhe | |
| ENST00000400017.6:c.1143_1145dup | ENSP00000382895.2:p.Leu381_Leu382insPhe | |
| ENST00000556336.5:c.1062_1064dup | ENSP00000450445.1:p.Leu354_Leu355insPhe | |
| ENST00000557771.5:c.1062_1064dup | ENSP00000451219.1:p.Leu354_Leu355insPhe | |
| NM_020366.3:c.1143_1145dup | NP_065099.3:p.Leu381_Leu382insPhe | |
| XM_011536983.1:c.1110_1112dup | XP_011535285.1:p.Leu370_Leu371insPhe | |
| NM_020366.4:c.1143_1145dup MANE Select | NP_065099.3:p.Leu381_Leu382insPhe |