Canonical Allele Identifier: CA2739289821

Gene: CPEB4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173932493_173932496del , CM000667.2:g.173932493_173932496del	GRCh38
NC_000005.9:g.173359496_173359499del , CM000667.1:g.173359496_173359499del	GRCh37
NC_000005.8:g.173292102_173292105del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265085.10:c.1251_1254del MANE Select	ENSP00000265085.5:p.Ile418MetfsTer?
ENST00000657000.1:c.-20-12474_-20-12471del	ENSP00000499433.1:n.-20-12474_-20-12471del
ENST00000659882.1:c.44_47del
ENST00000265085.9:c.1251_1254del	ENSP00000265085.5:p.Ile418MetfsTer?
ENST00000334035.9:c.1208-10533_1208-10530del	ENSP00000334533.5:n.1208-10533_1208-10530del
ENST00000517880.1:c.62-12474_62-12471del	ENSP00000427990.1:n.62-12474_62-12471del
ENST00000519152.5:c.308_311del
ENST00000519467.1:n.40-10533_40-10530del
ENST00000519835.5:c.1208-12474_1208-12471del	ENSP00000429048.1:n.1208-12474_1208-12471del
ENST00000520867.5:c.1208-12474_1208-12471del	ENSP00000429092.1:n.1208-12474_1208-12471del
ENST00000522336.5:c.105_108del	ENSP00000430345.1:p.Ile36MetfsTer?
NM_001308189.1:c.1208-10533_1208-10530del	NP_001295118.1:n.1208-10533_1208-10530del
NM_001308191.1:c.1208-12474_1208-12471del	NP_001295120.1:n.1208-12474_1208-12471del
NM_001308192.1:c.105_108del	NP_001295121.1:p.Ile36MetfsTer?
NM_001308193.1:c.62-12474_62-12471del	NP_001295122.1:n.62-12474_62-12471del
NM_030627.2:c.1251_1254del	NP_085130.2:p.Ile418MetfsTer?
NM_030627.3:c.1251_1254del	NP_085130.2:p.Ile418MetfsTer?
XM_005265994.1:c.1251_1254del	XP_005266051.1:p.Ile418MetfsTer?
XM_011534660.1:c.1251_1254del	XP_011532962.1:p.Ile418MetfsTer7
XM_011534661.1:c.1208-10391_1208-10388del	XP_011532963.1:n.1208-10391_1208-10388del
XM_011534660.2:c.1251_1254del	XP_011532962.1:p.Ile418MetfsTer7
XM_011534661.2:c.1208-10391_1208-10388del	XP_011532963.1:n.1208-10391_1208-10388del
NM_030627.4:c.1251_1254del MANE Select	NP_085130.2:p.Ile418MetfsTer?
NM_001308189.2:c.1208-10533_1208-10530del	NP_001295118.1:n.1208-10533_1208-10530del
NM_001308191.2:c.1208-12474_1208-12471del	NP_001295120.1:n.1208-12474_1208-12471del
NM_001308192.2:c.105_108del	NP_001295121.1:p.Ile36MetfsTer?
NM_001308193.2:c.62-12474_62-12471del	NP_001295122.1:n.62-12474_62-12471del