Linked Data
dbSNP Id:
rs779907404
ExAC:
12:111351023 C / CCT
gnomAD v2:
12-111351023-C-CCT
gnomAD v4:
12-110913219-C-CCT
MyVariant Identifiers:
chr12:g.111351023_111351024insCT (hg19)
chr12:g.110913219_110913220insCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913220_110913221dup , CM000674.2:g.110913220_110913221dup | GRCh38 |
| NC_000012.11:g.111351024_111351025dup , CM000674.1:g.111351024_111351025dup | GRCh37 |
| NC_000012.10:g.109835407_109835408dup | NCBI36 |
| NG_007554.1:g.12357_12358dup , LRG_393:g.12357_12358dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.353+25_353+26dup MANE Select | ENSP00000228841.8:n.353+25_353+26dup | |
| ENST00000663220.1:c.296+25_296+26dup | ENSP00000499568.1:n.296+25_296+26dup | |
| ENST00000228841.12:c.353+25_353+26dup | ENSP00000228841.7:n.353+25_353+26dup | |
| ENST00000548438.1:c.311+25_311+26dup | ENSP00000447154.1:n.311+25_311+26dup | |
| ENST00000549029.1:n.209_210dup | ||
| NM_000432.3:c.353+25_353+26dup , LRG_393t1:c.353+25_353+26dup | NP_000423.2:n.353+25_353+26dup | |
| NM_000432.4:c.353+25_353+26dup MANE Select | NP_000423.2:n.353+25_353+26dup |