Linked Data
dbSNP Id:
rs745575763
ExAC:
12:110023920 C / CA
gnomAD v2:
12-110023920-C-CA
gnomAD v4:
12-109586115-C-CA
MyVariant Identifiers:
chr12:g.110023920_110023921insA (hg19)
chr12:g.109586115_109586116insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109586116dup , CM000674.2:g.109586116dup | GRCh38 |
| NC_000012.11:g.110023921dup , CM000674.1:g.110023921dup | GRCh37 |
| NC_000012.10:g.108508304dup | NCBI36 |
| NG_007702.1:g.17422dup , LRG_156:g.17422dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-91-4730dup | ENSP00000439134.1:n.-91-4730dup | |
| ENST00000546277.6:c.622dup | ENSP00000438153.2:p.Ser208LysfsTer? | |
| ENST00000636529.2:n.173dup | ||
| ENST00000697195.1:c.*386dup | ENSP00000513181.1:n.*386dup | |
| ENST00000697196.1:c.622dup | ENSP00000513182.1:p.Ser208LysfsTer? | |
| ENST00000228510.8:c.622dup MANE Select | ENSP00000228510.3:p.Ser208LysfsTer? | |
| ENST00000636529.1:c.159dup | ||
| ENST00000636996.1:c.470dup | ||
| ENST00000228510.7:c.622dup | ENSP00000228510.3:p.Ser208LysfsTer? | |
| ENST00000392727.7:c.466dup | ENSP00000376487.3:p.Ser156LysfsTer? | |
| ENST00000447878.6:c.*69dup | ENSP00000415555.2:n.*69dup | |
| ENST00000537237.5:c.*386dup | ENSP00000445382.1:n.*386dup | |
| ENST00000539575.4:c.622dup | ENSP00000443551.2:p.Ser208LysfsTer? | |
| ENST00000539696.5:c.-91-4730dup | ENSP00000439134.1:n.-91-4730dup | |
| ENST00000545516.1:n.167dup | ||
| ENST00000545774.5:c.*69dup | ENSP00000443978.1:n.*69dup | |
| ENST00000625889.2:c.466dup | ENSP00000486846.1:p.Ser156LysfsTer? | |
| ENST00000629016.2:c.*69dup | ENSP00000486804.1:n.*69dup | |
| NM_000431.3:c.622dup | NP_000422.1:p.Ser208LysfsTer? | |
| NM_001114185.2:c.622dup | NP_001107657.1:p.Ser208LysfsTer? | |
| NM_001301182.1:c.466dup | NP_001288111.1:p.Ser156LysfsTer? | |
| XM_011538372.1:c.622dup | XP_011536674.1:p.Ser208LysfsTer? | |
| XM_017019313.2:c.466dup | XP_016874802.1:p.Ser156LysfsTer? | |
| XM_017019314.1:c.622dup | XP_016874803.1:p.Ser208LysfsTer? | |
| XM_024448982.1:c.622dup | XP_024304750.1:p.Ser208LysfsTer? | |
| NM_000431.4:c.622dup MANE Select | NP_000422.1:p.Ser208LysfsTer? | |
| NM_001114185.3:c.622dup | NP_001107657.1:p.Ser208LysfsTer? | |
| NM_001301182.2:c.466dup | NP_001288111.1:p.Ser156LysfsTer? |