Linked Data
dbSNP Id:
rs1336757837
gnomAD v2:
14-23888962-G-GGAAA
gnomAD v4:
14-23419753-G-GGAAA
MyVariant Identifiers:
chr14:g.23888962_23888963insGAAA (hg19)
chr14:g.23419753_23419754insGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419754_23419757dup , CM000676.2:g.23419754_23419757dup | GRCh38 |
| NC_000014.8:g.23888963_23888966dup , CM000676.1:g.23888963_23888966dup | GRCh37 |
| NC_000014.7:g.22958803_22958806dup | NCBI36 |
| NG_007884.1:g.20905_20908dup , LRG_384:g.20905_20908dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3726+88_3726+91dup MANE Select | ENSP00000347507.3:n.3726+88_3726+91dup | |
| ENST00000355349.3:c.3726+88_3726+91dup | ENSP00000347507.3:n.3726+88_3726+91dup | |
| NM_000257.3:c.3726+88_3726+91dup | NP_000248.2:n.3726+88_3726+91dup | |
| XM_017021340.1:c.3726+88_3726+91dup | XP_016876829.1:n.3726+88_3726+91dup | |
| NM_000257.4:c.3726+88_3726+91dup MANE Select | NP_000248.2:n.3726+88_3726+91dup |