Canonical Allele Identifier: CA2616111912

Gene: APOA1

Linked Data

• gnomAD v4: 11-116835918-T-TGGCCTTCTCGCTGAGCGTGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116835919_116835940dup , CM000673.2:g.116835919_116835940dup	GRCh38
NC_000011.9:g.116706635_116706656dup , CM000673.1:g.116706635_116706656dup	GRCh37
NC_000011.8:g.116211845_116211866dup	NCBI36
NG_012021.1:g.6683_6704dup , LRG_767:g.6683_6704dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.672_693dup MANE Select	ENSP00000236850.3:p.Lys232GlufsTer?
ENST00000236850.4:c.672_693dup	ENSP00000236850.3:p.Lys232GlufsTer?
ENST00000359492.6:c.672_693dup	ENSP00000352471.2:p.Lys232GlufsTer?
ENST00000375320.5:c.672_693dup	ENSP00000364469.1:p.Lys232GlufsTer?
ENST00000375323.5:c.672_693dup	ENSP00000364472.1:p.Lys232GlufsTer?
ENST00000375329.6:c.606_627dup	ENSP00000364478.2:p.Lys210GlufsTer?
NM_000039.1:c.672_693dup , LRG_767t1:c.672_693dup	NP_000030.1:p.Lys232GlufsTer?
XM_005271539.2:c.672_693dup	XP_005271596.1:p.Lys232GlufsTer?
XM_005271540.1:c.672_693dup	XP_005271597.1:p.Lys232GlufsTer?
NM_000039.2:c.672_693dup	NP_000030.1:p.Lys232GlufsTer?
NM_001318017.1:c.672_693dup	NP_001304946.1:p.Lys232GlufsTer?
NM_001318018.1:c.672_693dup	NP_001304947.1:p.Lys232GlufsTer?
NM_001318021.1:c.345_366dup	NP_001304950.1:p.Lys123GlufsTer?
NM_001318017.2:c.672_693dup	NP_001304946.1:p.Lys232GlufsTer?
NM_001318018.2:c.672_693dup	NP_001304947.1:p.Lys232GlufsTer?
NM_000039.3:c.672_693dup MANE Select	NP_000030.1:p.Lys232GlufsTer?