Canonical Allele Identifier: CA1028212886

Gene: APOB

Linked Data

• dbSNP Id: rs149505602
• gnomAD v3: 2-21014929-GTT-G
• gnomAD v4: 2-21014929-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21014937_21014938del , CM000664.2:g.21014937_21014938del	GRCh38
NC_000002.11:g.21237809_21237810del , CM000664.1:g.21237809_21237810del	GRCh37
NC_000002.10:g.21091314_21091315del	NCBI36
NG_011793.1:g.34143_34144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*3002+142_*3002+143del	ENSP00000501110.2:n.*3002+142_*3002+143del
ENST00000673882.2:c.*2791+142_*2791+143del	ENSP00000501253.2:n.*2791+142_*2791+143del
ENST00000673739.1:c.3410+142_3410+143del	ENSP00000501110.1:n.3410+142_3410+143del
ENST00000673882.1:c.3199+142_3199+143del	ENSP00000501253.1:n.3199+142_3199+143del
ENST00000233242.5:c.3696+142_3696+143del MANE Select	ENSP00000233242.1:n.3696+142_3696+143del
ENST00000616098.4:c.3696+142_3696+143del	ENSP00000477990.1:n.3696+142_3696+143del
NM_000384.2:c.3696+142_3696+143del	NP_000375.2:n.3696+142_3696+143del
XM_011532809.1:c.3696+142_3696+143del	XP_011531111.1:n.3696+142_3696+143del
NM_000384.3:c.3696+142_3696+143del MANE Select	NP_000375.3:n.3696+142_3696+143del