Canonical Allele Identifier: CA16618610

Gene: CYC1

Linked Data

• ClinVar Variation Id: 418884
• ClinVar RCV Id: RCV000486568 ; RCV002063705
• dbSNP Id: rs67708571
• gnomAD v4: 8-144096762-TGGCAGTGGGCATGTGGAATACTTCTCC-T
• COSMIC: COSN20122783
• MyVariant Identifiers: chr8:g.145151666_145151692del (hg19) ; chr8:g.144096763_144096789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144096763_144096789del , CM000670.2:g.144096763_144096789del	GRCh38
NC_000008.10:g.145151666_145151692del , CM000670.1:g.145151666_145151692del	GRCh37
NC_000008.9:g.145223654_145223680del	NCBI36
NG_033872.1:g.6729_6755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318911.5:c.772+19_772+45del MANE Select	ENSP00000317159.4:n.772+19_772+45del
ENST00000318911.4:c.772+19_772+45del	ENSP00000317159.4:n.772+19_772+45del
ENST00000525122.1:n.400+19_400+45del
ENST00000533444.1:n.1437+19_1437+45del
NM_001916.4:c.772+19_772+45del	NP_001907.2:n.772+19_772+45del
XM_017013102.1:c.595+19_595+45del	XP_016868591.1:n.595+19_595+45del
XM_024447072.1:c.595+19_595+45del	XP_024302840.1:n.595+19_595+45del
NM_001916.5:c.772+19_772+45del MANE Select	NP_001907.3:n.772+19_772+45del