Canonical Allele Identifier: CA2658056789

Gene: APOB

Linked Data

• gnomAD v4: 2-21014929-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21014938_21014939insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000664.2:g.21014938_21014939insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.21237810_21237811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000664.1:g.21237810_21237811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.21091315_21091316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_011793.1:g.34144_34145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

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