Canonical Allele Identifier: CA2691053461

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104831734-C-CGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831734_104831735insGTA , CM000671.2:g.104831734_104831735insGTA	GRCh38
NC_000009.11:g.107594015_107594016insGTA , CM000671.1:g.107594015_107594016insGTA	GRCh37
NC_000009.10:g.106633836_106633837insGTA	NCBI36
NG_007981.1:g.101421_101422insTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1602_1603insTAC MANE Select	ENSP00000363868.3:p.Ala534_Gly535insTyr
ENST00000678995.1:c.1602_1603insTAC	ENSP00000504612.1:p.Ala534_Gly535insTyr
ENST00000374736.7:c.1602_1603insTAC	ENSP00000363868.3:p.Ala534_Gly535insTyr
NM_005502.3:c.1602_1603insTAC	NP_005493.2:p.Ala534_Gly535insTyr
XM_005251773.1:c.1602_1603insTAC	XP_005251830.1:p.Ala534_Gly535insTyr
XM_005251776.1:c.1422_1423insTAC	XP_005251833.1:p.Ala474_Gly475insTyr
XM_011518339.1:c.1677_1678insTAC	XP_011516641.1:p.Ala559_Gly560insTyr
XM_011518340.1:c.1677_1678insTAC	XP_011516642.1:p.Ala559_Gly560insTyr
XM_011518341.1:c.1677_1678insTAC	XP_011516643.1:p.Ala559_Gly560insTyr
XM_011518342.1:c.1239_1240insTAC	XP_011516644.1:p.Ala413_Gly414insTyr
XM_011518343.1:c.1677_1678insTAC	XP_011516645.1:p.Ala559_Gly560insTyr
XM_011518344.1:c.1677_1678insTAC	XP_011516646.1:p.Ala559_Gly560insTyr
XM_005251773.3:c.1602_1603insTAC	XP_005251830.1:p.Ala534_Gly535insTyr
XM_005251776.3:c.1422_1423insTAC	XP_005251833.1:p.Ala474_Gly475insTyr
XM_011518339.3:c.1677_1678insTAC	XP_011516641.1:p.Ala559_Gly560insTyr
XM_011518340.3:c.1677_1678insTAC	XP_011516642.1:p.Ala559_Gly560insTyr
XM_011518341.3:c.1677_1678insTAC	XP_011516643.1:p.Ala559_Gly560insTyr
XM_011518342.3:c.1239_1240insTAC	XP_011516644.1:p.Ala413_Gly414insTyr
XM_011518344.2:c.1677_1678insTAC	XP_011516646.1:p.Ala559_Gly560insTyr
XM_017014378.2:c.1677_1678insTAC	XP_016869867.1:p.Ala559_Gly560insTyr
XM_017014379.2:c.1677_1678insTAC	XP_016869868.1:p.Ala559_Gly560insTyr
XM_017014380.2:c.1677_1678insTAC	XP_016869869.1:p.Ala559_Gly560insTyr
XM_017014381.2:c.1677_1678insTAC	XP_016869870.1:p.Ala559_Gly560insTyr
XM_017014382.2:c.1539_1540insTAC	XP_016869871.1:p.Ala513_Gly514insTyr
XR_001746223.1:n.1990_1991insTAC
NM_005502.4:c.1602_1603insTAC MANE Select	NP_005493.2:p.Ala534_Gly535insTyr