MyVariant.info:
GRCh38
chr17:g.4898865dupC
GRCh38
chr17:g.4898864_4898865insC
GRCh37
chr17:g.4802160dupC
GRCh37
chr17:g.4802159_4802160insC
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005828 (MID)
Exomes Max Group AF
0.00006125 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898868dup , CM000679.2:g.4898868dup | GRCh38 |
| NC_000017.10:g.4802163dup , CM000679.1:g.4802163dup | GRCh37 |
| NC_000017.9:g.4742942dup | NCBI36 |
| NG_008029.2:g.9211dup | |
| NG_028005.1:g.70529dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1353dup MANE Select | ENSP00000497829.1:p.Asn452GlufsTer4 | |
| ENST00000649830.1:c.529dup | ENSP00000496907.1:p.Glu177GlyfsTer? | |
| ENST00000652550.1:n.1079dup | ||
| ENST00000293780.4:c.1353dup | ENSP00000293780.4:p.Asn452GlufsTer4 | |
| ENST00000572438.1:n.1039dup | ||
| NM_000080.3:c.1353dup | NP_000071.1:p.Asn452GlufsTer4 | |
| NM_000080.4:c.1353dup MANE Select | NP_000071.1:p.Asn452GlufsTer4 | |
| XM_017024115.1:c.1317dup | XP_016879604.1:p.Asn440GlufsTer4 |