Linked Data
ClinVar Variation Id:
1071663
ClinVar RCV Id:
RCV001384182
dbSNP Id:
rs1380450190
gnomAD v2:
5-13753605-C-CTTGGT
gnomAD v3:
5-13753496-C-CTTGGT
gnomAD v4:
5-13753496-C-CTTGGT
MyVariant Identifiers:
chr5:g.13753605_13753606insTTGGT (hg19)
chr5:g.13753496_13753497insTTGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753498_13753502dup , CM000667.2:g.13753498_13753502dup | GRCh38 |
| NC_000005.9:g.13753607_13753611dup , CM000667.1:g.13753607_13753611dup | GRCh37 |
| NC_000005.8:g.13806607_13806611dup | NCBI36 |
| NG_013081.1:g.195980_195984dup | |
| NG_013081.2:g.195980_195984dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10604_10608dup MANE Select | ENSP00000265104.4:p.Glu3537ThrfsTer9 | |
| ENST00000681290.1:c.10559_10563dup | ENSP00000505288.1:p.Glu3522ThrfsTer9 | |
| ENST00000265104.4:c.10604_10608dup | ENSP00000265104.4:p.Glu3537ThrfsTer9 | |
| NM_001369.2:c.10604_10608dup | NP_001360.1:p.Glu3537ThrfsTer9 | |
| XM_005248262.2:c.10559_10563dup | XP_005248319.1:p.Glu3522ThrfsTer9 | |
| XM_005248262.3:c.10712_10716dup | XP_005248319.2:p.Glu3573ThrfsTer9 | |
| XM_017009177.1:c.10712_10716dup | XP_016864666.1:p.Glu3573ThrfsTer9 | |
| XM_017009178.1:c.9617_9621dup | XP_016864667.1:p.Glu3208ThrfsTer9 | |
| XM_017009179.2:c.9617_9621dup | XP_016864668.1:p.Glu3208ThrfsTer9 | |
| XM_017009180.1:c.10712_10716dup | XP_016864669.1:p.Glu3573ThrfsTer9 | |
| XM_017009181.1:c.10712_10716dup | XP_016864670.1:p.Glu3573ThrfsTer9 | |
| XM_017009182.1:c.10712_10716dup | XP_016864671.1:p.Glu3573ThrfsTer9 | |
| XM_017009185.1:c.5801_5805dup | XP_016864674.1:p.Glu1936ThrfsTer9 | |
| XM_017009186.1:c.5354_5358dup | XP_016864675.1:p.Glu1787ThrfsTer9 | |
| XM_017009188.1:c.4691_4695dup | XP_016864677.1:p.Glu1566ThrfsTer9 | |
| XM_024454388.1:c.9617_9621dup | XP_024310156.1:p.Glu3208ThrfsTer9 | |
| XM_024454389.1:c.9206_9210dup | XP_024310157.1:p.Glu3071ThrfsTer9 | |
| NM_001369.3:c.10604_10608dup MANE Select | NP_001360.1:p.Glu3537ThrfsTer9 |