ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018504 (NFE)
Genomes Max Group AF
0.00007913 (NFE)
Exomes Max Group AF
0.00018818 (NFE)
MyVariant.info:
GRCh38
chr5:g.13701317dupA
GRCh38
chr5:g.13701316_13701317insA
GRCh37
chr5:g.13701426dupA
GRCh37
chr5:g.13701425_13701426insA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701323dup , CM000667.2:g.13701323dup | GRCh38 |
| NC_000005.9:g.13701432dup , CM000667.1:g.13701432dup | GRCh37 |
| NC_000005.8:g.13754432dup | NCBI36 |
| NG_013081.1:g.248164dup | |
| NG_013081.2:g.248164dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.791dup | ||
| ENST00000265104.5:c.13458dup MANE Select | ENSP00000265104.4:p.Asn4487Ter | |
| ENST00000681290.1:c.13413dup | ENSP00000505288.1:p.Asn4472Ter | |
| ENST00000265104.4:c.13458dup | ENSP00000265104.4:p.Asn4487Ter | |
| NM_001369.2:c.13458dup | NP_001360.1:p.Asn4487Ter | |
| XM_005248262.2:c.13413dup | XP_005248319.1:p.Asn4472Ter | |
| XM_005248262.3:c.13566dup | XP_005248319.2:p.Asn4523Ter | |
| XM_017009177.1:c.13146dup | XP_016864666.1:p.Asn4383Ter | |
| XM_017009178.1:c.12471dup | XP_016864667.1:p.Asn4158Ter | |
| XM_017009179.2:c.12471dup | XP_016864668.1:p.Asn4158Ter | |
| XM_017009185.1:c.8655dup | XP_016864674.1:p.Asn2886Ter | |
| XM_017009186.1:c.8208dup | XP_016864675.1:p.Asn2737Ter | |
| XM_017009188.1:c.7545dup | XP_016864677.1:p.Asn2516Ter | |
| XM_024454388.1:c.12471dup | XP_024310156.1:p.Asn4158Ter | |
| XM_024454389.1:c.12060dup | XP_024310157.1:p.Asn4021Ter | |
| NM_001369.3:c.13458dup MANE Select | NP_001360.1:p.Asn4487Ter |