Canonical Allele Identifier: CA10576050

Gene: ACP5 ZNF627

Linked Data

• ClinVar Variation Id: 225659
• ClinVar RCV Id: RCV000210955
• dbSNP Id: rs878853218
• MyVariant Identifiers: chr19:g.11686013_11686031del (hg19) ; chr19:g.11575198_11575216del (hg38)
• PubMed: PMID:21217755 ; PMID:26789720

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11575198_11575216del , CM000681.2:g.11575198_11575216del	GRCh38
NC_000019.9:g.11686013_11686031del , CM000681.1:g.11686013_11686031del	GRCh37
NC_000019.8:g.11547013_11547031del	NCBI36
NG_028127.1:g.8771_8789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218758.10:c.772_790del (ACP5)	ENSP00000218758.4:p.Ser258TrpfsTer?
ENST00000412435.7:c.772_790del (ACP5)	ENSP00000392374.1:p.Ser258TrpfsTer?
ENST00000588524.6:n.1405_1423del (ACP5)
ENST00000589792.6:c.772_790del (ACP5)	ENSP00000468685.2:p.Ser258TrpfsTer?
ENST00000590832.2:c.772_790del (ACP5)	ENSP00000465127.2:p.Ser258TrpfsTer?
ENST00000591319.2:c.772_790del (ACP5)	ENSP00000464831.2:p.Ser258TrpfsTer?
ENST00000592659.2:c.772_790del (ACP5)	ENSP00000465498.2:p.Ser258TrpfsTer?
ENST00000592828.7:c.772_790del (ACP5)	ENSP00000468767.3:p.Ser258TrpfsTer?
ENST00000649386.2:c.772_790del (ACP5)	ENSP00000497140.2:p.Ser258TrpfsTer?
ENST00000695791.1:c.772_790del (ACP5)	ENSP00000512173.1:p.Ser258TrpfsTer?
ENST00000695809.1:c.769_787del (ACP5)	ENSP00000512189.1:p.Ser257TrpfsTer?
ENST00000695810.1:c.694_712del (ACP5)	ENSP00000512190.1:p.Ser232TrpfsTer?
ENST00000695811.1:c.772_790del (ACP5)	ENSP00000512191.1:p.Ser258TrpfsTer?
ENST00000695812.1:n.1390_1408del (ACP5)
ENST00000695813.1:c.769_787del (ACP5)	ENSP00000512192.1:p.Ser257TrpfsTer?
ENST00000695814.1:c.673_691del (ACP5)	ENSP00000512193.1:p.Ser225TrpfsTer?
ENST00000695815.1:c.769_787del (ACP5)	ENSP00000512194.1:p.Ser257TrpfsTer?
ENST00000695816.1:n.1327_1345del (ACP5)
ENST00000695817.1:c.769_787del (ACP5)	ENSP00000512195.1:p.Ser257TrpfsTer?
ENST00000695818.1:c.*275_*293del (ACP5)	ENSP00000512196.1:n.*275_*293del
ENST00000695819.1:n.1277_1295del (ACP5)
ENST00000695820.1:c.694_712del (ACP5)	ENSP00000512198.1:p.Ser232TrpfsTer?
ENST00000695821.1:c.694_712del (ACP5)	ENSP00000512199.1:p.Ser232TrpfsTer?
ENST00000695838.1:n.2748_2766del (ACP5)
ENST00000648477.1:c.772_790del (ACP5) MANE Select	ENSP00000496973.1:p.Ser258TrpfsTer?
ENST00000218758.9:c.772_790del (ACP5)	ENSP00000218758.4:p.Ser258TrpfsTer?
ENST00000412435.6:c.772_790del (ACP5)	ENSP00000392374.1:p.Ser258TrpfsTer?
ENST00000433365.2:c.772_790del (ACP5)	ENSP00000413456.1:p.Ser258TrpfsTer?
ENST00000585493.5:c.-197-52_-197-34del (ZNF627)	ENSP00000464997.1:n.-197-52_-197-34del
ENST00000588651.1:n.428-52_428-34del (ZNF627)
ENST00000590420.1:c.55-10_63del (ACP5)
ENST00000592828.5:c.772_790del (ACP5)	ENSP00000468767.1:p.Ser258TrpfsTer?
ENST00000593279.5:n.416-52_416-34del (ZNF627)
NM_001111034.1:c.772_790del (ACP5)	NP_001104504.1:p.Ser258TrpfsTer?
NM_001111035.1:c.772_790del (ACP5)	NP_001104505.1:p.Ser258TrpfsTer?
NM_001111036.1:c.772_790del (ACP5)	NP_001104506.1:p.Ser258TrpfsTer?
NM_001611.3:c.772_790del (ACP5)	NP_001602.1:p.Ser258TrpfsTer?
XM_005259938.1:c.772_790del (ACP5)	XP_005259995.1:p.Ser258TrpfsTer?
XM_005259939.3:c.772_790del (ACP5)	XP_005259996.1:p.Ser258TrpfsTer?
XM_011528069.1:c.772_790del (ACP5)	XP_011526371.1:p.Ser258TrpfsTer?
NM_001111034.2:c.772_790del (ACP5)	NP_001104504.1:p.Ser258TrpfsTer?
NM_001111035.2:c.772_790del (ACP5)	NP_001104505.1:p.Ser258TrpfsTer?
NM_001111036.2:c.772_790del (ACP5)	NP_001104506.1:p.Ser258TrpfsTer?
NM_001322023.1:c.772_790del (ACP5)	NP_001308952.1:p.Ser258TrpfsTer?
NM_001611.5:c.772_790del (ACP5) MANE Select	NP_001602.1:p.Ser258TrpfsTer?
XM_011528069.2:c.772_790del (ACP5)	XP_011526371.1:p.Ser258TrpfsTer?
NM_001111034.3:c.772_790del (ACP5)	NP_001104504.1:p.Ser258TrpfsTer?
NM_001111035.3:c.772_790del (ACP5)	NP_001104505.1:p.Ser258TrpfsTer?
NM_001111036.3:c.772_790del (ACP5)	NP_001104506.1:p.Ser258TrpfsTer?
NM_001322023.2:c.772_790del (ACP5)	NP_001308952.1:p.Ser258TrpfsTer?