Canonical Allele Identifier: CA858710251

Gene: ZNF483

Linked Data

• dbSNP Id: rs1475837121
• MyVariant Identifiers: chr9:g.114293715_114293716insGCGGTATCTCGGCTCACT (hg19) ; chr9:g.111531435_111531436insGCGGTATCTCGGCTCACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.111531438_111531455dup , CM000671.2:g.111531438_111531455dup	GRCh38
NC_000009.11:g.114293718_114293735dup , CM000671.1:g.114293718_114293735dup	GRCh37
NC_000009.10:g.113333539_113333556dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309235.6:c.501+475_501+492dup MANE Select	ENSP00000311679.5:n.501+475_501+492dup
ENST00000309235.5:c.501+475_501+492dup	ENSP00000311679.5:n.501+475_501+492dup
ENST00000355824.7:c.501+475_501+492dup	ENSP00000438048.1:n.501+475_501+492dup
ENST00000358151.8:c.501+475_501+492dup	ENSP00000350871.4:n.501+475_501+492dup
NM_001007169.3:c.501+475_501+492dup	NP_001007170.1:n.501+475_501+492dup
NM_133464.3:c.501+475_501+492dup	NP_597721.2:n.501+475_501+492dup
XM_011518299.1:c.501+475_501+492dup	XP_011516601.1:n.501+475_501+492dup
XM_011518300.1:c.501+475_501+492dup	XP_011516602.1:n.501+475_501+492dup
XM_011518301.1:c.33+475_33+492dup	XP_011516603.1:n.33+475_33+492dup
NM_001007169.4:c.501+475_501+492dup	NP_001007170.1:n.501+475_501+492dup
NM_133464.4:c.501+475_501+492dup	NP_597721.2:n.501+475_501+492dup
XM_011518300.2:c.501+475_501+492dup	XP_011516602.1:n.501+475_501+492dup
XM_017014337.1:c.501+475_501+492dup	XP_016869826.1:n.501+475_501+492dup
XM_017014338.1:c.501+475_501+492dup	XP_016869827.1:n.501+475_501+492dup
XM_017014339.1:c.501+475_501+492dup	XP_016869828.1:n.501+475_501+492dup
NM_001007169.5:c.501+475_501+492dup	NP_001007170.1:n.501+475_501+492dup
NM_133464.5:c.501+475_501+492dup MANE Select	NP_597721.2:n.501+475_501+492dup
NM_001007169.6:c.501+475_501+492dup	NP_001007170.1:n.501+475_501+492dup