Canonical Allele Identifier: CA274659733

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231210_90231211del , CM000677.2:g.90231210_90231211del	GRCh38
NC_000015.9:g.90774442_90774443del , CM000677.1:g.90774442_90774443del	GRCh37
NC_000015.8:g.88575446_88575447del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006384.4:c.350_351del MANE Select	NP_006375.2:p.Phe117Ter
ENST00000328649.11:c.350_351del MANE Select	ENSP00000333873.6:p.Phe117Ter
NM_001277764.1:c.470_471del	NP_001264693.1:p.Phe157Ter
NM_001277764.2:c.470_471del	NP_001264693.1:p.Phe157Ter
NM_006384.3:c.350_351del	NP_006375.2:p.Phe117Ter
NR_102427.1:n.536_537del
NR_102428.1:n.402_403del
ENST00000328649.10:c.350_351del	ENSP00000333873.6:p.Phe117Ter
ENST00000612800.1:c.470_471del	ENSP00000479860.1:p.Phe157Ter
ENST00000650306.1:c.-95_-94del	ENSP00000497451.1:n.-95_-94del
ENST00000695870.1:n.2209_2210del
ENST00000695871.1:n.623_624del
ENST00000695872.1:n.382_383del
ENST00000695873.1:n.530_531del
ENST00000695874.1:n.519_520del
XM_006720375.1:c.350_351del	XP_006720438.1:p.Phe117Ter
XM_006720375.2:c.350_351del	XP_006720438.1:p.Phe117Ter