Canonical Allele Identifier: CA658653860

Gene: ZNF814

Linked Data

• ClinVar Variation Id: 441022
• ClinVar RCV Id: RCV000509158
• dbSNP Id: rs1555777007
• MyVariant Identifiers: chr19:g.58384866del (hg19) ; chr19:g.57873498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.57873499del , CM000681.2:g.57873499del	GRCh38
NC_000019.9:g.58384867del , CM000681.1:g.58384867del	GRCh37
NC_000019.8:g.63076679del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435989.7:c.1892del MANE Select	ENSP00000410545.1:p.Pro631LeufsTer?
ENST00000435989.6:c.1892del	ENSP00000410545.1:p.Pro631LeufsTer?
ENST00000594629.1:n.436-2686del
ENST00000595048.5:c.141+3418del
ENST00000595295.1:c.37-14515del	ENSP00000469704.1:n.37-14515del
ENST00000595894.5:c.163+3418del	ENSP00000471385.1:n.163+3418del
ENST00000596604.5:c.163+3418del	ENSP00000470328.1:n.163+3418del
ENST00000597342.5:c.250+3418del	ENSP00000470296.1:n.250+3418del
ENST00000597348.5:c.234+1658del	ENSP00000471045.1:n.234+1658del
ENST00000597832.5:c.163+3418del	ENSP00000469912.1:n.163+3418del
ENST00000600634.5:c.163+3418del	ENSP00000472089.1:n.163+3418del
ENST00000614383.1:c.1142del	ENSP00000480123.1:p.Pro381LeufsTer?
NM_001144989.1:c.1892del	NP_001138461.1:p.Pro631LeufsTer?
XM_017027197.1:c.1646del	XP_016882686.1:p.Pro549LeufsTer?
NM_001144989.2:c.1892del MANE Select	NP_001138461.1:p.Pro631LeufsTer?