Canonical Allele Identifier: CA4375877

Gene: CNPY4 TAF6

Linked Data

• ClinVar Variation Id: 284982
• ClinVar RCV Id: RCV000296898 ; RCV002519165
• dbSNP Id: rs755399414
• ExAC: 7:99717344 ATTGT / A
• gnomAD v2: 7-99717344-ATTGT-A
• gnomAD v3: 7-100119721-ATTGT-A
• gnomAD v4: 7-100119721-ATTGT-A
• COSMIC: COSN25614718 ; COSN25614719
• MyVariant Identifiers: chr7:g.99717345_99717348del (hg19) ; chr7:g.100119723_100119726del (hg38) ; chr7:g.100119722_100119725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100119726_100119729del , CM000669.2:g.100119726_100119729del	GRCh38
NC_000007.13:g.99717349_99717352del , CM000669.1:g.99717349_99717352del	GRCh37
NC_000007.12:g.99555285_99555288del	NCBI36
NG_029454.1:g.5134_5137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262932.5:c.-19_-16del (CNPY4) MANE Select	ENSP00000262932.3:n.-19_-16del
ENST00000262932.4:c.-19_-16del (CNPY4)	ENSP00000262932.3:n.-19_-16del
ENST00000437822.6:c.22_25del (TAF6)	ENSP00000399982.2:p.Thr8SerfsTer?
NM_001190415.1:c.22_25del (TAF6)	NP_001177344.1:p.Thr8SerfsTer?
NM_152755.1:c.-19_-16del (CNPY4)	NP_689968.1:n.-19_-16del
XM_024446896.1:c.-59-5457_-59-5454del (TAF6)	XP_024302664.1:n.-59-5457_-59-5454del
NM_152755.2:c.-19_-16del (CNPY4) MANE Select	NP_689968.1:n.-19_-16del
NM_001190415.2:c.22_25del (TAF6)	NP_001177344.1:p.Thr8SerfsTer?