Linked Data
ClinVar Variation Id:
460972
ClinVar RCV Id:
RCV000532289
dbSNP Id:
rs875989792
gnomAD v4:
16-23622998-T-TACTTGTTG
MyVariant Identifiers:
chr16:g.23634320_23634327dup (hg19)
chr16:g.23634319_23634320insACTTGTTG (hg19)
chr16:g.23622999_23623006dup (hg38)
chr16:g.23622998_23622999insACTTGTTG (hg38)
PubMed:
PMID:26283626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23623000_23623007dup , CM000678.2:g.23623000_23623007dup | GRCh38 |
| NC_000016.9:g.23634321_23634328dup , CM000678.1:g.23634321_23634328dup | GRCh37 |
| NC_000016.8:g.23541822_23541829dup | NCBI36 |
| NG_007406.1:g.23352_23359dup , LRG_308:g.23352_23359dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.2965_2972dup | ENSP00000460666.3:p.Glu992AsnfsTer3 | |
| ENST00000565038.2:c.*440_*447dup | ENSP00000459882.2:n.*440_*447dup | |
| ENST00000566069.6:c.2959_2966dup | ENSP00000459237.2:p.Glu990AsnfsTer3 | |
| ENST00000697377.2:c.2803_2810dup | ENSP00000513286.2:p.Glu938AsnfsTer3 | |
| ENST00000697379.2:c.2965_2972dup | ENSP00000513287.2:p.Glu992AsnfsTer3 | |
| ENST00000561514.2:c.2074_2081dup | ENSP00000460666.2:p.Glu695AsnfsTer3 | |
| ENST00000697374.1:c.2074_2081dup | ENSP00000513284.1:p.Glu695AsnfsTer3 | |
| ENST00000697375.1:n.4306_4313dup | ||
| ENST00000697376.1:c.2074_2081dup | ENSP00000513285.1:p.Glu695AsnfsTer3 | |
| ENST00000697377.1:c.1912_1919dup | ENSP00000513286.1:p.Glu641AsnfsTer3 | |
| ENST00000697378.1:n.3479_3486dup | ||
| ENST00000697379.1:c.2074_2081dup | ENSP00000513287.1:p.Glu695AsnfsTer3 | |
| ENST00000697380.1:n.2251_2258dup | ||
| ENST00000697381.1:n.1654_1661dup | ||
| ENST00000697382.1:c.2074_2081dup | ENSP00000513288.1:p.Glu695AsnfsTer3 | |
| ENST00000697383.1:c.493_500dup | ENSP00000513289.1:p.Glu168AsnfsTer3 | |
| ENST00000261584.9:c.2959_2966dup MANE Select | ENSP00000261584.4:p.Glu990AsnfsTer3 | |
| ENST00000261584.8:c.2959_2966dup | ENSP00000261584.4:p.Glu990AsnfsTer3 | |
| ENST00000568219.5:c.2074_2081dup | ENSP00000454703.2:p.Glu695AsnfsTer3 | |
| NM_024675.3:c.2959_2966dup , LRG_308t1:c.2959_2966dup | NP_078951.2:p.Glu990AsnfsTer3 | |
| XM_011545946.1:c.2965_2972dup | XP_011544248.1:p.Glu992AsnfsTer3 | |
| XM_011545947.1:c.2965_2972dup | XP_011544249.1:p.Glu992AsnfsTer3 | |
| XM_011545948.1:c.2074_2081dup | XP_011544250.1:p.Glu695AsnfsTer3 | |
| XR_950851.1:n.3755_3762dup | ||
| XM_011545946.2:c.2965_2972dup | XP_011544248.1:p.Glu992AsnfsTer3 | |
| XM_011545947.2:c.2965_2972dup | XP_011544249.1:p.Glu992AsnfsTer3 | |
| XM_011545948.2:c.2074_2081dup | XP_011544250.1:p.Glu695AsnfsTer3 | |
| XM_017023671.1:c.2965_2972dup | XP_016879160.1:p.Glu992AsnfsTer3 | |
| XM_017023672.2:c.2959_2966dup | XP_016879161.1:p.Glu990AsnfsTer3 | |
| XM_017023673.2:c.2959_2966dup | XP_016879162.1:p.Glu990AsnfsTer3 | |
| NM_024675.4:c.2959_2966dup MANE Select | NP_078951.2:p.Glu990AsnfsTer3 |