Canonical Allele Identifier: CA985610627

Gene: APOH

Linked Data

• dbSNP Id: rs2073448933
• gnomAD v3: 17-66227875-CCAAGACCTTCT-C
• gnomAD v4: 17-66227875-CCAAGACCTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.66227878_66227888del , CM000679.2:g.66227878_66227888del	GRCh38
NC_000017.10:g.64223996_64224006del , CM000679.1:g.64223996_64224006del	GRCh37
NC_000017.9:g.61654458_61654468del	NCBI36
NG_012045.1:g.6553_6563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000205948.11:c.241+134_241+144del MANE Select	ENSP00000205948.6:n.241+134_241+144del
ENST00000205948.10:c.241+134_241+144del	ENSP00000205948.6:n.241+134_241+144del
ENST00000577982.1:c.241+134_241+144del	ENSP00000464301.1:n.241+134_241+144del
ENST00000581797.5:c.61+134_61+144del	ENSP00000463553.1:n.61+134_61+144del
NM_000042.2:c.241+134_241+144del	NP_000033.2:n.241+134_241+144del
NM_000042.3:c.241+134_241+144del MANE Select	NP_000033.2:n.241+134_241+144del