Linked Data
ClinVar Variation Id:
212387
ClinVar RCV Id:
RCV000192770
dbSNP Id:
rs797046040
gnomAD v2:
12-124156104-C-CT
gnomAD v4:
12-123671557-C-CT
MyVariant Identifiers:
chr12:g.124156105dupT (hg19)
chr12:g.124156104_124156105insT (hg19)
chr12:g.123671558dupT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123671558dup , CM000674.2:g.123671558dup | GRCh38 |
| NC_000012.11:g.124156105dup , CM000674.1:g.124156105dup | GRCh37 |
| NC_000012.10:g.122722058dup | NCBI36 |
| NG_030442.1:g.5446dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303372.7:c.134dup MANE Select | ENSP00000304941.5:p.Val46GlyfsTer? | |
| ENST00000679504.1:c.134dup | ENSP00000505006.1:p.Val46GlyfsTer? | |
| ENST00000680500.1:c.134dup | ENSP00000506438.1:p.Val46GlyfsTer? | |
| ENST00000680574.1:c.134dup | ENSP00000505356.1:p.Val46GlyfsTer? | |
| ENST00000303372.6:c.134dup | ENSP00000304941.5:p.Val46GlyfsTer? | |
| ENST00000426174.6:c.134dup | ENSP00000395171.2:p.Val46GlyfsTer? | |
| ENST00000541523.1:c.160dup | ENSP00000437644.1:p.Trp54LeufsTer? | |
| NM_001143850.2:c.134dup | NP_001137322.1:p.Val46GlyfsTer? | |
| NM_024809.4:c.134dup | NP_079085.2:p.Val46GlyfsTer? | |
| XM_005253623.2:c.134dup | XP_005253680.1:p.Val46GlyfsTer? | |
| XM_006719605.2:c.134dup | XP_006719668.1:p.Val46GlyfsTer? | |
| XM_006719605.3:c.134dup | XP_006719668.1:p.Val46GlyfsTer? | |
| XM_017019974.1:c.134dup | XP_016875463.1:p.Val46GlyfsTer? | |
| XM_017019975.1:c.-649dup | XP_016875464.1:n.-649dup | |
| NM_024809.5:c.134dup MANE Select | NP_079085.2:p.Val46GlyfsTer? | |
| NM_001143850.3:c.134dup | NP_001137322.1:p.Val46GlyfsTer? |