Linked Data
dbSNP Id:
rs769502745
gnomAD v2:
10-104595046-A-AGCTTTCTGTCTCT
gnomAD v4:
10-102835289-A-AGCTTTCTGTCTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835290_102835291insCTTTCTGTCTCTG , CM000672.2:g.102835290_102835291insCTTTCTGTCTCTG | GRCh38 |
| NC_000010.10:g.104595047_104595048insCTTTCTGTCTCTG , CM000672.1:g.104595047_104595048insCTTTCTGTCTCTG | GRCh37 |
| NC_000010.9:g.104585037_104585038insCTTTCTGTCTCTG | NCBI36 |
| NG_007955.1:g.7244_7245insAGAGACAGAAAGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.400_401insAGAGACAGAAAGC MANE Select | ENSP00000358903.3:p.Leu134GlnfsTer26 | |
| ENST00000638190.1:c.400_401insAGAGACAGAAAGC | ENSP00000492539.1:p.Leu134GlnfsTer26 | |
| ENST00000638272.1:c.297+1775_297+1776insAGAGACAGAAAGC | ENSP00000491508.1:n.297+1775_297+1776insA... | |
| ENST00000638971.1:c.400_401insAGAGACAGAAAGC | ENSP00000492313.1:p.Leu134GlnfsTer26 | |
| ENST00000639393.1:c.400_401insAGAGACAGAAAGC | ENSP00000492651.1:p.Leu134GlnfsTer26 | |
| ENST00000640633.1:n.162_163insAGAGACAGAAAGC | ||
| ENST00000369887.3:c.400_401insAGAGACAGAAAGC | ENSP00000358903.3:p.Leu134GlnfsTer26 | |
| ENST00000489268.1:n.654_655insAGAGACAGAAAGC | ||
| NM_000102.3:c.400_401insAGAGACAGAAAGC | NP_000093.1:p.Leu134GlnfsTer26 | |
| NM_000102.4:c.400_401insAGAGACAGAAAGC MANE Select | NP_000093.1:p.Leu134GlnfsTer26 |