Canonical Allele Identifier: CA6289743

Gene: APOA1

Linked Data

• ClinVar Variation Id: 1371350
• ClinVar RCV Id: RCV001878960
• dbSNP Id: rs747014491
• ExAC: 11:116706531 G / GTGT
• gnomAD v2: 11-116706531-G-GTGT
• gnomAD v3: 11-116835815-G-GTGT
• gnomAD v4: 11-116835815-G-GTGT
• MyVariant Identifiers: chr11:g.116706531_116706532insTGT (hg19) ; chr11:g.116835815_116835816insTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116835818_116835820dup , CM000673.2:g.116835818_116835820dup	GRCh38
NC_000011.9:g.116706534_116706536dup , CM000673.1:g.116706534_116706536dup	GRCh37
NC_000011.8:g.116211744_116211746dup	NCBI36
NG_012021.1:g.6805_6807dup , LRG_767:g.6805_6807dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.794_796dup MANE Select	ENSP00000236850.3:p.Asn265_Thr266insAsn
ENST00000236850.4:c.794_796dup	ENSP00000236850.3:p.Asn265_Thr266insAsn
ENST00000359492.6:c.794_796dup	ENSP00000352471.2:p.Asn265_Thr266insAsn
ENST00000375320.5:c.794_796dup	ENSP00000364469.1:p.Asn265_Thr266insAsn
ENST00000375323.5:c.794_796dup	ENSP00000364472.1:p.Asn265_Thr266insAsn
ENST00000375329.6:c.728_730dup	ENSP00000364478.2:p.Asn243_Thr244insAsn
NM_000039.1:c.794_796dup , LRG_767t1:c.794_796dup	NP_000030.1:p.Asn265_Thr266insAsn
XM_005271539.2:c.794_796dup	XP_005271596.1:p.Asn265_Thr266insAsn
XM_005271540.1:c.794_796dup	XP_005271597.1:p.Asn265_Thr266insAsn
NM_000039.2:c.794_796dup	NP_000030.1:p.Asn265_Thr266insAsn
NM_001318017.1:c.794_796dup	NP_001304946.1:p.Asn265_Thr266insAsn
NM_001318018.1:c.794_796dup	NP_001304947.1:p.Asn265_Thr266insAsn
NM_001318021.1:c.467_469dup	NP_001304950.1:p.Asn156_Thr157insAsn
NM_001318017.2:c.794_796dup	NP_001304946.1:p.Asn265_Thr266insAsn
NM_001318018.2:c.794_796dup	NP_001304947.1:p.Asn265_Thr266insAsn
NM_000039.3:c.794_796dup MANE Select	NP_000030.1:p.Asn265_Thr266insAsn