Canonical Allele Identifier: CA2493478954

Gene: APOB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015251_21015258delinsTTCTCTTC , CM000664.2:g.21015251_21015258delinsTTCTCTTC	GRCh38
NC_000002.11:g.21238123_21238130delinsTTCTCTTC , CM000664.1:g.21238123_21238130delinsTTCTCTTC	GRCh37
NC_000002.10:g.21091628_21091635delinsTTCTCTTC	NCBI36
NG_011793.1:g.33816_33823delinsGAAGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2817_*2824delinsGAAGAGAA	ENSP00000501110.2:n.*2817_*2824delinsGAAGAGAA
ENST00000673882.2:c.*2606_*2613delinsGAAGAGAA	ENSP00000501253.2:n.*2606_*2613delinsGAAGAGAA
ENST00000673739.1:c.3225_3232delinsGAAGAGAA	ENSP00000501110.1:n.3225_3232delinsGAAGAGAA
ENST00000673882.1:c.3014_3021delinsGAAGAGAA	ENSP00000501253.1:n.3014_3021delinsGAAGAGAA
ENST00000233242.5:c.3511_3518delinsGAAGAGAA MANE Select	ENSP00000233242.1:p.Glu1171=
ENST00000616098.4:c.3511_3518delinsGAAGAGAA	ENSP00000477990.1:p.Glu1171=
NM_000384.2:c.3511_3518delinsGAAGAGAA	NP_000375.2:p.Glu1171=
XM_011532809.1:c.3511_3518delinsGAAGAGAA	XP_011531111.1:p.Glu1171=
NM_000384.3:c.3511_3518delinsGAAGAGAA MANE Select	NP_000375.3:p.Glu1171=