Canonical Allele Identifier: CA112842007

Gene: CEP72

Linked Data

• dbSNP Id: rs768440320
• MyVariant Identifiers: chr5:g.618533_618534insAT (hg19) ; chr5:g.618418_618419insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.618419_618420dup , CM000667.2:g.618419_618420dup	GRCh38
NC_000005.9:g.618534_618535dup , CM000667.1:g.618534_618535dup	GRCh37
NC_000005.8:g.671534_671535dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264935.6:c.83-571_83-570dup MANE Select	ENSP00000264935.5:n.83-571_83-570dup
ENST00000264935.5:c.83-571_83-570dup	ENSP00000264935.5:n.83-571_83-570dup
NM_018140.3:c.83-571_83-570dup	NP_060610.2:n.83-571_83-570dup
XM_005248322.2:c.-68-571_-68-570dup	XP_005248379.1:n.-68-571_-68-570dup
XM_011514063.1:c.83-571_83-570dup	XP_011512365.1:n.83-571_83-570dup
XM_011514064.1:c.-68-571_-68-570dup	XP_011512366.1:n.-68-571_-68-570dup
XM_011514065.1:c.-68-571_-68-570dup	XP_011512367.1:n.-68-571_-68-570dup
XM_011514066.1:c.-68-571_-68-570dup	XP_011512368.1:n.-68-571_-68-570dup
XR_925628.1:n.101-571_101-570dup
XR_925630.1:n.101-571_101-570dup
XR_925631.1:n.101-571_101-570dup
XM_005248322.3:c.-68-571_-68-570dup	XP_005248379.1:n.-68-571_-68-570dup
XM_011514064.2:c.-68-571_-68-570dup	XP_011512366.1:n.-68-571_-68-570dup
XM_017009626.1:c.-376-571_-376-570dup	XP_016865115.1:n.-376-571_-376-570dup
XM_017009627.1:c.-376-571_-376-570dup	XP_016865116.1:n.-376-571_-376-570dup
XR_001742146.1:n.95-571_95-570dup
XR_001742147.2:n.78-571_78-570dup
XR_001742148.1:n.25-571_25-570dup
XR_001742149.1:n.208-571_208-570dup
XR_925630.2:n.101-571_101-570dup
XR_925631.2:n.101-571_101-570dup
NM_018140.4:c.83-571_83-570dup MANE Select	NP_060610.2:n.83-571_83-570dup
NR_164122.1:n.263-571_263-570dup