Linked Data
dbSNP Id:
rs1491372217
gnomAD v3:
12-102894430-A-AG
gnomAD v4:
12-102894430-A-AG
MyVariant Identifiers:
chr12:g.103288208_103288209insG (hg19)
chr12:g.102894430_102894431insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894430_102894431insG , CM000674.2:g.102894430_102894431insG | GRCh38 |
| NC_000012.11:g.103288208_103288209insG , CM000674.1:g.103288208_103288209insG | GRCh37 |
| NC_000012.10:g.101812338_101812339insG | NCBI36 |
| NG_008690.1:g.28172_28173insC | |
| NG_008690.2:g.68980_68981insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.352+304_352+305insC MANE Select | ENSP00000448059.1:n.352+304_352+305insC | |
| ENST00000307000.7:c.337+304_337+305insC | ENSP00000303500.2:n.337+304_337+305insC | |
| ENST00000548928.1:n.274+304_274+305insC | ||
| ENST00000549111.5:n.448+304_448+305insC | ||
| ENST00000550978.6:c.336+304_336+305insC | ||
| ENST00000551337.5:c.352+304_352+305insC | ENSP00000447620.1:n.352+304_352+305insC | |
| ENST00000551988.5:n.441+304_441+305insC | ||
| ENST00000553106.5:c.352+304_352+305insC | ENSP00000448059.1:n.352+304_352+305insC | |
| NM_000277.1:c.352+304_352+305insC | NP_000268.1:n.352+304_352+305insC | |
| XM_011538422.1:c.352+304_352+305insC | XP_011536724.1:n.352+304_352+305insC | |
| NM_000277.2:c.352+304_352+305insC | NP_000268.1:n.352+304_352+305insC | |
| NM_001354304.1:c.352+304_352+305insC | NP_001341233.1:n.352+304_352+305insC | |
| XM_017019370.2:c.352+304_352+305insC | XP_016874859.1:n.352+304_352+305insC | |
| NM_000277.3:c.352+304_352+305insC MANE Select | NP_000268.1:n.352+304_352+305insC | |
| NM_001354304.2:c.352+304_352+305insC | NP_001341233.1:n.352+304_352+305insC |