MyVariant.info:
GRCh38
chr5:g.80675096_80675097insA
GRCh38
chr5:g.80675095_80675096insA
GRCh37
chr5:g.79970916_79970917insA
GRCh37
chr5:g.79970915_79970916insA
GRCh37
chr5:g.79970914_79970915insA
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675103dup , CM000667.2:g.80675103dup | GRCh38 |
| NC_000005.9:g.79970922dup , CM000667.1:g.79970922dup | GRCh37 |
| NC_000005.8:g.80006678dup | NCBI36 |
| NG_016607.1:g.25629dup | |
| NG_016607.2:g.25629dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1148dup MANE Select | ENSP00000265081.6:p.Asn385GlnfsTer19 | |
| ENST00000658259.1:c.980dup | ENSP00000499617.1:p.Asn329GlnfsTer19 | |
| ENST00000667069.1:c.1148dup | ENSP00000499502.1:p.Asn385GlnfsTer19 | |
| ENST00000670357.1:c.1148dup | ENSP00000499791.1:p.Asn385GlnfsTer19 | |
| ENST00000265081.6:c.1148dup | ENSP00000265081.6:p.Asn385GlnfsTer19 | |
| NM_002439.4:c.1148dup | NP_002430.3:p.Asn385GlnfsTer19 | |
| NM_002439.5:c.1148dup MANE Select | NP_002430.3:p.Asn385GlnfsTer19 |