Canonical Allele Identifier: CA2793650472

Gene: BCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193598_112193599insCACACCCAACACA , CM000673.2:g.112193598_112193599insCACACCCAACACA	GRCh38
NC_000011.9:g.112064321_112064322insCACACCCAACACA , CM000673.1:g.112064321_112064322insCACACCCAACACA	GRCh37
NC_000011.8:g.111569531_111569532insCACACCCAACACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.418_419insCACACCCAACACA MANE Select	ENSP00000350314.5:p.Ile140ThrfsTer24
ENST00000357685.9:c.418_419insCACACCCAACACA	ENSP00000350314.5:p.Ile140ThrfsTer24
ENST00000361053.8:c.418_419insCACACCCAACACA	ENSP00000354338.4:p.Ile140ThrfsTer24
ENST00000438022.5:c.316_317insCACACCCAACACA	ENSP00000414843.1:p.Ile106ThrfsTer24
ENST00000460924.6:n.510_511insCACACCCAACACA
ENST00000494860.5:n.270_271insCACACCCAACACA
ENST00000525468.1:n.407_408insCACACCCAACACA
ENST00000525987.5:n.761_762insCACACCCAACACA
ENST00000526088.5:c.316_317insCACACCCAACACA	ENSP00000436615.1:p.Ile106ThrfsTer24
ENST00000527939.1:c.*60_*61insCACACCCAACACA	ENSP00000436956.1:n.*60_*61insCACACCCAACACA
ENST00000530677.1:c.125_126insCACACCCAACACA
ENST00000531169.5:c.316_317insCACACCCAACACA	ENSP00000437053.1:p.Ile106ThrfsTer24
ENST00000532593.5:c.103_104insCACACCCAACACA	ENSP00000431802.1:p.Ile35ThrfsTer24
ENST00000532612.5:c.348_349insCACACCCAACACA
ENST00000534122.5:n.1033_1034insCACACCCAACACA
ENST00000534550.5:c.*60_*61insCACACCCAACACA	ENSP00000434488.1:n.*60_*61insCACACCCAACACA
NM_001037290.2:c.316_317insCACACCCAACACA	NP_001032367.2:p.Ile106ThrfsTer24
NM_001256397.1:c.316_317insCACACCCAACACA	NP_001243326.1:p.Ile106ThrfsTer24
NM_001256398.1:c.418_419insCACACCCAACACA	NP_001243327.1:p.Ile140ThrfsTer24
NM_001256400.1:c.103_104insCACACCCAACACA	NP_001243329.1:p.Ile35ThrfsTer24
NM_031938.5:c.418_419insCACACCCAACACA	NP_114144.4:p.Ile140ThrfsTer24
NM_001037290.3:c.316_317insCACACCCAACACA	NP_001032367.3:p.Ile106ThrfsTer24
NM_001256397.2:c.316_317insCACACCCAACACA	NP_001243326.2:p.Ile106ThrfsTer24
NM_001256398.2:c.418_419insCACACCCAACACA	NP_001243327.2:p.Ile140ThrfsTer24
NM_001256400.2:c.103_104insCACACCCAACACA	NP_001243329.2:p.Ile35ThrfsTer24
NM_031938.7:c.418_419insCACACCCAACACA MANE Select	NP_114144.5:p.Ile140ThrfsTer24
NM_001037290.4:c.316_317insCACACCCAACACA	NP_001032367.3:p.Ile106ThrfsTer24
NM_001256397.3:c.316_317insCACACCCAACACA	NP_001243326.2:p.Ile106ThrfsTer24
NM_001256398.3:c.418_419insCACACCCAACACA	NP_001243327.2:p.Ile140ThrfsTer24
NM_001256400.3:c.103_104insCACACCCAACACA	NP_001243329.2:p.Ile35ThrfsTer24