Canonical Allele Identifier: CA6835165

Gene: ANAPC5

Linked Data

• dbSNP Id: rs752251968
• ExAC: 12:121756188 GGAA / G
• gnomAD v2: 12-121756188-GGAA-G
• gnomAD v4: 12-121318385-GGAA-G
• MyVariant Identifiers: chr12:g.121756189_121756191del (hg19) ; chr12:g.121318386_121318388del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318388_121318390del , CM000674.2:g.121318388_121318390del	GRCh38
NC_000012.11:g.121756191_121756193del , CM000674.1:g.121756191_121756193del	GRCh37
NC_000012.10:g.120240574_120240576del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1782_1784del MANE Select	ENSP00000261819.3:p.Ser595del
ENST00000261819.7:c.1782_1784del	ENSP00000261819.3:p.Ser595del
ENST00000441917.6:c.1446_1448del	ENSP00000415061.2:p.Ser483del
ENST00000534976.5:n.2514_2516del
ENST00000535482.1:c.780_782del	ENSP00000438754.1:p.Ser261del
ENST00000535641.5:n.1993_1995del
ENST00000539079.5:c.1106_1108del
ENST00000541887.5:c.1743_1745del	ENSP00000439875.1:p.Ser582del
ENST00000544314.5:n.900_902del
ENST00000545218.5:n.989-37_989-35del
NM_001137559.1:c.1446_1448del	NP_001131031.1:p.Ser483del
NM_016237.4:c.1782_1784del	NP_057321.2:p.Ser595del
XM_005253900.2:c.1743_1745del	XP_005253957.1:p.Ser582del
XM_006719449.1:c.588_590del	XP_006719512.1:p.Ser197del
NM_001330489.1:c.1743_1745del	NP_001317418.1:p.Ser582del
XM_017019423.2:c.588_590del	XP_016874912.1:p.Ser197del
XM_017019424.2:c.588_590del	XP_016874913.1:p.Ser197del
NM_016237.5:c.1782_1784del MANE Select	NP_057321.2:p.Ser595del
NM_001330489.2:c.1743_1745del	NP_001317418.1:p.Ser582del