Canonical Allele Identifier: CA2493472601
Gene: APOB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001778_21001791delinsCATGACTGTGGTTG , CM000664.2:g.21001778_21001791delinsCATGACTGTGGTTG GRCh38
NC_000002.11:g.21224650_21224663delinsCATGACTGTGGTTG , CM000664.1:g.21224650_21224663delinsCATGACTGTGGTTG GRCh37
NC_000002.10:g.21078155_21078168delinsCATGACTGTGGTTG NCBI36
NG_011793.1:g.47283_47296delinsCAACCACAGTCATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13631_13644delinsCAACCACAGTCATG MANE Select ENSP00000233242.1:p.Ser4544=
ENST00000616098.4:c.13629_13642delinsCAACCACAGTCATG ENSP00000477990.1:n.13629_13642delinsCAACCACAGTCATG
NM_000384.2:c.13631_13644delinsCAACCACAGTCATG NP_000375.2:p.Ser4544=
XM_011532809.1:c.5870-2518_5870-2505delinsCAACCACAGTCATG XP_011531111.1:n.5870-2518_5870-2505delinsCAACCACAGTCATG
NM_000384.3:c.13631_13644delinsCAACCACAGTCATG MANE Select NP_000375.3:p.Ser4544=
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