Canonical Allele Identifier: CA2697549296

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231464dup , CM000677.2:g.90231464dup	GRCh38
NC_000015.9:g.90774696dup , CM000677.1:g.90774696dup	GRCh37
NC_000015.8:g.88575700dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006384.4:c.242dup MANE Select	NP_006375.2:p.Ala82SerfsTer6
ENST00000328649.11:c.242dup MANE Select	ENSP00000333873.6:p.Ala82SerfsTer6
NM_001277764.1:c.362dup	NP_001264693.1:p.Ala122SerfsTer6
NM_001277764.2:c.362dup	NP_001264693.1:p.Ala122SerfsTer6
NM_006384.3:c.242dup	NP_006375.2:p.Ala82SerfsTer6
NR_102427.1:n.428dup
NR_102428.1:n.294dup
ENST00000328649.10:c.242dup	ENSP00000333873.6:p.Ala82SerfsTer6
ENST00000612800.1:c.362dup	ENSP00000479860.1:p.Ala122SerfsTer6
ENST00000650306.1:c.-203dup	ENSP00000497451.1:n.-203dup
ENST00000695870.1:n.2101dup
ENST00000695871.1:n.515dup
ENST00000695872.1:n.274dup
ENST00000695873.1:n.279dup
ENST00000695874.1:n.411dup
XM_006720375.1:c.242dup	XP_006720438.1:p.Ala82SerfsTer6
XM_006720375.2:c.242dup	XP_006720438.1:p.Ala82SerfsTer6