Canonical Allele Identifier: CA2658056796

Gene: APOB

Linked Data

• gnomAD v4: 2-21014929-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTGTTTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21014938_21014939insTTTTTTTTTTTTTTTTTTTTGTTTTGTTTGTTTTTTTTTTT , CM000664.2:g.21014938_21014939insTTTTTTTTTTTTTTTTTTTTGTTTTGTTTGTTTTTTTTTTT	GRCh38
NC_000002.11:g.21237810_21237811insTTTTTTTTTTTTTTTTTTTTGTTTTGTTTGTTTTTTTTTTT , CM000664.1:g.21237810_21237811insTTTTTTTTTTTTTTTTTTTTGTTTTGTTTGTTTTTTTTTTT	GRCh37
NC_000002.10:g.21091315_21091316insTTTTTTTTTTTTTTTTTTTTGTTTTGTTTGTTTTTTTTTTT	NCBI36
NG_011793.1:g.34144_34145insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*3002+143_*3002+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000501110.2:n.*3002+143_*3002+144insAACAAACAAAACAAAAAAA...
ENST00000673882.2:c.*2791+143_*2791+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000501253.2:n.*2791+143_*2791+144insAACAAACAAAACAAAAAAA...
ENST00000673739.1:c.3410+143_3410+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000501110.1:n.3410+143_3410+144insAACAAACAAAACAAAAAAAAA...
ENST00000673882.1:c.3199+143_3199+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000501253.1:n.3199+143_3199+144insAACAAACAAAACAAAAAAAAA...
ENST00000233242.5:c.3696+143_3696+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000233242.1:n.3696+143_3696+144insAACAAACAAAACAAAAAAAAA...
ENST00000616098.4:c.3696+143_3696+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000477990.1:n.3696+143_3696+144insAACAAACAAAACAAAAAAAAA...
NM_000384.2:c.3696+143_3696+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_000375.2:n.3696+143_3696+144insAACAAACAAAACAAAAAAAAAAAAAAA...
XM_011532809.1:c.3696+143_3696+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011531111.1:n.3696+143_3696+144insAACAAACAAAACAAAAAAAAAAAA...
NM_000384.3:c.3696+143_3696+144insAACAAACAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_000375.3:n.3696+143_3696+144insAACAAACAAAACAAAAAAAAAAAAAAA...