Canonical Allele Identifier: CA601838758

Gene: CEP164

Linked Data

• dbSNP Id: rs1278173623
• gnomAD v2: 11-117187931-GCA-G
• gnomAD v3: 11-117317215-GCA-G
• gnomAD v4: 11-117317215-GCA-G
• MyVariant Identifiers: chr11:g.117187932_117187933del (hg19) ; chr11:g.117317216_117317217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117317216_117317217del , CM000673.2:g.117317216_117317217del	GRCh38
NC_000011.9:g.117187932_117187933del , CM000673.1:g.117187932_117187933del	GRCh37
NC_000011.8:g.116693142_116693143del	NCBI36
NG_029372.1:g.4040_4041del
NG_033032.1:g.439_440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525734.5:c.-98+2488_-98+2489del	ENSP00000436609.1:n.-98+2488_-98+2489del
XM_017017364.1:c.-98+683_-98+684del	XP_016872853.1:n.-98+683_-98+684del