Linked Data
dbSNP Id:
rs35350743
gnomAD v3:
12-102894429-T-TG
gnomAD v4:
12-102894429-T-TG
MyVariant Identifiers:
chr12:g.103288207_103288208insG (hg19)
chr12:g.102894429_102894430insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894429_102894430insG , CM000674.2:g.102894429_102894430insG | GRCh38 |
| NC_000012.11:g.103288207_103288208insG , CM000674.1:g.103288207_103288208insG | GRCh37 |
| NC_000012.10:g.101812337_101812338insG | NCBI36 |
| NG_008690.1:g.28173_28174insC | |
| NG_008690.2:g.68981_68982insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.352+305_352+306insC MANE Select | ENSP00000448059.1:n.352+305_352+306insC | |
| ENST00000307000.7:c.337+305_337+306insC | ENSP00000303500.2:n.337+305_337+306insC | |
| ENST00000548928.1:n.274+305_274+306insC | ||
| ENST00000549111.5:n.448+305_448+306insC | ||
| ENST00000550978.6:c.336+305_336+306insC | ||
| ENST00000551337.5:c.352+305_352+306insC | ENSP00000447620.1:n.352+305_352+306insC | |
| ENST00000551988.5:n.441+305_441+306insC | ||
| ENST00000553106.5:c.352+305_352+306insC | ENSP00000448059.1:n.352+305_352+306insC | |
| NM_000277.1:c.352+305_352+306insC | NP_000268.1:n.352+305_352+306insC | |
| XM_011538422.1:c.352+305_352+306insC | XP_011536724.1:n.352+305_352+306insC | |
| NM_000277.2:c.352+305_352+306insC | NP_000268.1:n.352+305_352+306insC | |
| NM_001354304.1:c.352+305_352+306insC | NP_001341233.1:n.352+305_352+306insC | |
| XM_017019370.2:c.352+305_352+306insC | XP_016874859.1:n.352+305_352+306insC | |
| NM_000277.3:c.352+305_352+306insC MANE Select | NP_000268.1:n.352+305_352+306insC | |
| NM_001354304.2:c.352+305_352+306insC | NP_001341233.1:n.352+305_352+306insC |