Canonical Allele Identifier: CA8071384

Gene: CETP

Linked Data

• dbSNP Id: rs761282123
• ExAC: 16:57017351 CCT / C
• gnomAD v2: 16-57017351-CCT-C
• gnomAD v3: 16-56983439-CCT-C
• gnomAD v4: 16-56983439-CCT-C
• MyVariant Identifiers: chr16:g.57017352_57017353del (hg19) ; chr16:g.56983440_56983441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56983440_56983441del , CM000678.2:g.56983440_56983441del	GRCh38
NC_000016.9:g.57017352_57017353del , CM000678.1:g.57017352_57017353del	GRCh37
NC_000016.8:g.55574853_55574854del	NCBI36
NG_008952.1:g.26518_26519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200676.8:c.1407+29_1407+30del MANE Select	ENSP00000200676.3:n.1407+29_1407+30del
ENST00000200676.7:c.1407+29_1407+30del	ENSP00000200676.3:n.1407+29_1407+30del
ENST00000379780.6:c.1227+29_1227+30del	ENSP00000369106.2:n.1227+29_1227+30del
ENST00000566128.1:c.1212+29_1212+30del	ENSP00000456276.1:n.1212+29_1212+30del
NM_000078.2:c.1407+29_1407+30del	NP_000069.2:n.1407+29_1407+30del
NM_001286085.1:c.1227+29_1227+30del	NP_001273014.1:n.1227+29_1227+30del
NM_000078.3:c.1407+29_1407+30del MANE Select	NP_000069.2:n.1407+29_1407+30del
NM_001286085.2:c.1227+29_1227+30del	NP_001273014.1:n.1227+29_1227+30del