Canonical Allele Identifier: CA807744861

Gene: CPEB4

Linked Data

• dbSNP Id: rs1316665269
• gnomAD v3: 5-173932422-CTT-C
• gnomAD v4: 5-173932422-CTT-C
• MyVariant Identifiers: chr5:g.173359426_173359427del (hg19) ; chr5:g.173932423_173932424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173932423_173932424del , CM000667.2:g.173932423_173932424del	GRCh38
NC_000005.9:g.173359426_173359427del , CM000667.1:g.173359426_173359427del	GRCh37
NC_000005.8:g.173292032_173292033del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265085.10:c.1208-27_1208-26del MANE Select	ENSP00000265085.5:n.1208-27_1208-26del
ENST00000657000.1:c.-20-12544_-20-12543del	ENSP00000499433.1:n.-20-12544_-20-12543del
ENST00000265085.9:c.1208-27_1208-26del	ENSP00000265085.5:n.1208-27_1208-26del
ENST00000334035.9:c.1208-10603_1208-10602del	ENSP00000334533.5:n.1208-10603_1208-10602del
ENST00000517880.1:c.62-12544_62-12543del	ENSP00000427990.1:n.62-12544_62-12543del
ENST00000519152.5:c.265-27_265-26del
ENST00000519467.1:n.40-10603_40-10602del
ENST00000519835.5:c.1208-12544_1208-12543del	ENSP00000429048.1:n.1208-12544_1208-12543del
ENST00000520867.5:c.1208-12544_1208-12543del	ENSP00000429092.1:n.1208-12544_1208-12543del
ENST00000522336.5:c.62-27_62-26del	ENSP00000430345.1:n.62-27_62-26del
NM_001308189.1:c.1208-10603_1208-10602del	NP_001295118.1:n.1208-10603_1208-10602del
NM_001308191.1:c.1208-12544_1208-12543del	NP_001295120.1:n.1208-12544_1208-12543del
NM_001308192.1:c.62-27_62-26del	NP_001295121.1:n.62-27_62-26del
NM_001308193.1:c.62-12544_62-12543del	NP_001295122.1:n.62-12544_62-12543del
NM_030627.2:c.1208-27_1208-26del	NP_085130.2:n.1208-27_1208-26del
NM_030627.3:c.1208-27_1208-26del	NP_085130.2:n.1208-27_1208-26del
XM_005265994.1:c.1208-27_1208-26del	XP_005266051.1:n.1208-27_1208-26del
XM_011534660.1:c.1208-27_1208-26del	XP_011532962.1:n.1208-27_1208-26del
XM_011534661.1:c.1208-10461_1208-10460del	XP_011532963.1:n.1208-10461_1208-10460del
XM_011534660.2:c.1208-27_1208-26del	XP_011532962.1:n.1208-27_1208-26del
XM_011534661.2:c.1208-10461_1208-10460del	XP_011532963.1:n.1208-10461_1208-10460del
NM_030627.4:c.1208-27_1208-26del MANE Select	NP_085130.2:n.1208-27_1208-26del
NM_001308189.2:c.1208-10603_1208-10602del	NP_001295118.1:n.1208-10603_1208-10602del
NM_001308191.2:c.1208-12544_1208-12543del	NP_001295120.1:n.1208-12544_1208-12543del
NM_001308192.2:c.62-27_62-26del	NP_001295121.1:n.62-27_62-26del
NM_001308193.2:c.62-12544_62-12543del	NP_001295122.1:n.62-12544_62-12543del