Linked Data
dbSNP Id:
rs1211010868
gnomAD v2:
12-103288225-A-AAGAAATAGCT
gnomAD v3:
12-102894447-A-AAGAAATAGCT
gnomAD v4:
12-102894447-A-AAGAAATAGCT
MyVariant Identifiers:
chr12:g.103288225_103288226insAGAAATAGCT (hg19)
chr12:g.102894447_102894448insAGAAATAGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894449_102894458dup , CM000674.2:g.102894449_102894458dup | GRCh38 |
| NC_000012.11:g.103288227_103288236dup , CM000674.1:g.103288227_103288236dup | GRCh37 |
| NC_000012.10:g.101812357_101812366dup | NCBI36 |
| NG_008690.1:g.28146_28155dup | |
| NG_008690.2:g.68954_68963dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.352+278_352+287dup MANE Select | ENSP00000448059.1:n.352+278_352+287dup | |
| ENST00000307000.7:c.337+278_337+287dup | ENSP00000303500.2:n.337+278_337+287dup | |
| ENST00000548928.1:n.274+278_274+287dup | ||
| ENST00000549111.5:n.448+278_448+287dup | ||
| ENST00000550978.6:c.336+278_336+287dup | ||
| ENST00000551337.5:c.352+278_352+287dup | ENSP00000447620.1:n.352+278_352+287dup | |
| ENST00000551988.5:n.441+278_441+287dup | ||
| ENST00000553106.5:c.352+278_352+287dup | ENSP00000448059.1:n.352+278_352+287dup | |
| NM_000277.1:c.352+278_352+287dup | NP_000268.1:n.352+278_352+287dup | |
| XM_011538422.1:c.352+278_352+287dup | XP_011536724.1:n.352+278_352+287dup | |
| NM_000277.2:c.352+278_352+287dup | NP_000268.1:n.352+278_352+287dup | |
| NM_001354304.1:c.352+278_352+287dup | NP_001341233.1:n.352+278_352+287dup | |
| XM_017019370.2:c.352+278_352+287dup | XP_016874859.1:n.352+278_352+287dup | |
| NM_000277.3:c.352+278_352+287dup MANE Select | NP_000268.1:n.352+278_352+287dup | |
| NM_001354304.2:c.352+278_352+287dup | NP_001341233.1:n.352+278_352+287dup |