Linked Data
dbSNP Id:
rs1367677765
gnomAD v2:
14-23888866-A-ATTCCCC
MyVariant Identifiers:
chr14:g.23888866_23888867insTTCCCC (hg19)
chr14:g.23419657_23419658insTTCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419658_23419659insTCCCCT , CM000676.2:g.23419658_23419659insTCCCCT | GRCh38 |
| NC_000014.8:g.23888867_23888868insTCCCCT , CM000676.1:g.23888867_23888868insTCCCCT | GRCh37 |
| NC_000014.7:g.22958707_22958708insTCCCCT | NCBI36 |
| NG_007884.1:g.21004_21005insGGGGAA , LRG_384:g.21004_21005insGGGGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3727-49_3727-48insGGGGAA MANE Select | ENSP00000347507.3:n.3727-49_3727-48insGGGGAA | |
| ENST00000355349.3:c.3727-49_3727-48insGGGGAA | ENSP00000347507.3:n.3727-49_3727-48insGGGGAA | |
| NM_000257.3:c.3727-49_3727-48insGGGGAA | NP_000248.2:n.3727-49_3727-48insGGGGAA | |
| XM_017021340.1:c.3727-49_3727-48insGGGGAA | XP_016876829.1:n.3727-49_3727-48insGGGGAA | |
| NM_000257.4:c.3727-49_3727-48insGGGGAA MANE Select | NP_000248.2:n.3727-49_3727-48insGGGGAA |