Canonical Allele Identifier: CA2691055415

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 2700752
• ClinVar RCV Id: RCV003547383
• gnomAD v4: 9-104822477-AACCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104822481_104822485del , CM000671.2:g.104822481_104822485del	GRCh38
NC_000009.11:g.107584762_107584766del , CM000671.1:g.107584762_107584766del	GRCh37
NC_000009.10:g.106624583_106624587del	NCBI36
NG_007981.1:g.110674_110678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2828+14_2828+18del MANE Select	ENSP00000363868.3:n.2828+14_2828+18del
ENST00000678995.1:c.2828+14_2828+18del	ENSP00000504612.1:n.2828+14_2828+18del
ENST00000374736.7:c.2828+14_2828+18del	ENSP00000363868.3:n.2828+14_2828+18del
NM_005502.3:c.2828+14_2828+18del	NP_005493.2:n.2828+14_2828+18del
XM_005251773.1:c.2828+14_2828+18del	XP_005251830.1:n.2828+14_2828+18del
XM_005251776.1:c.2648+14_2648+18del	XP_005251833.1:n.2648+14_2648+18del
XM_011518339.1:c.2903+14_2903+18del	XP_011516641.1:n.2903+14_2903+18del
XM_011518340.1:c.2903+14_2903+18del	XP_011516642.1:n.2903+14_2903+18del
XM_011518341.1:c.2903+14_2903+18del	XP_011516643.1:n.2903+14_2903+18del
XM_011518342.1:c.2465+14_2465+18del	XP_011516644.1:n.2465+14_2465+18del
XM_011518343.1:c.2903+14_2903+18del	XP_011516645.1:n.2903+14_2903+18del
XM_011518344.1:c.2903+14_2903+18del	XP_011516646.1:n.2903+14_2903+18del
XM_005251773.3:c.2828+14_2828+18del	XP_005251830.1:n.2828+14_2828+18del
XM_005251776.3:c.2648+14_2648+18del	XP_005251833.1:n.2648+14_2648+18del
XM_011518339.3:c.2903+14_2903+18del	XP_011516641.1:n.2903+14_2903+18del
XM_011518340.3:c.2903+14_2903+18del	XP_011516642.1:n.2903+14_2903+18del
XM_011518341.3:c.2903+14_2903+18del	XP_011516643.1:n.2903+14_2903+18del
XM_011518342.3:c.2465+14_2465+18del	XP_011516644.1:n.2465+14_2465+18del
XM_011518344.2:c.2903+14_2903+18del	XP_011516646.1:n.2903+14_2903+18del
XM_017014378.2:c.2903+14_2903+18del	XP_016869867.1:n.2903+14_2903+18del
XM_017014379.2:c.2903+14_2903+18del	XP_016869868.1:n.2903+14_2903+18del
XM_017014380.2:c.2903+14_2903+18del	XP_016869869.1:n.2903+14_2903+18del
XM_017014381.2:c.2903+14_2903+18del	XP_016869870.1:n.2903+14_2903+18del
XM_017014382.2:c.2765+14_2765+18del	XP_016869871.1:n.2765+14_2765+18del
XR_001746223.1:n.3216+14_3216+18del
NM_005502.4:c.2828+14_2828+18del MANE Select	NP_005493.2:n.2828+14_2828+18del