Canonical Allele Identifier: CA1869965098

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928074_104928075delinsGC , CM000671.2:g.104928074_104928075delinsGC	GRCh38
NC_000009.11:g.107690355_107690356delinsGC , CM000671.1:g.107690355_107690356delinsGC	GRCh37
NC_000009.10:g.106730176_106730177delinsGC	NCBI36
NG_007981.1:g.5081_5082delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.-233_-232delinsGC MANE Select	ENSP00000363868.3:n.-233_-232delinsGC
ENST00000678995.1:c.-233_-232delinsGC	ENSP00000504612.1:n.-233_-232delinsGC
ENST00000374733.1:c.-255_-254delinsGC	ENSP00000363865.1:n.-255_-254delinsGC
ENST00000374736.7:c.-233_-232delinsGC	ENSP00000363868.3:n.-233_-232delinsGC
ENST00000423487.6:c.-233_-232delinsGC	ENSP00000416623.2:n.-233_-232delinsGC
NM_005502.3:c.-233_-232delinsGC	NP_005493.2:n.-233_-232delinsGC
XM_005251773.1:c.-233_-232delinsGC	XP_005251830.1:n.-233_-232delinsGC
XM_005251776.1:c.-255_-254delinsGC	XP_005251833.1:n.-255_-254delinsGC
XM_011518339.1:c.-233_-232delinsGC	XP_011516641.1:n.-233_-232delinsGC
XM_011518341.1:c.-233_-232delinsGC	XP_011516643.1:n.-233_-232delinsGC
XM_011518342.1:c.-296_-295delinsGC	XP_011516644.1:n.-296_-295delinsGC
XM_011518343.1:c.-233_-232delinsGC	XP_011516645.1:n.-233_-232delinsGC
XM_011518344.1:c.-233_-232delinsGC	XP_011516646.1:n.-233_-232delinsGC
XR_930204.1:n.734+164_734+165delinsGC
XM_005251773.3:c.-233_-232delinsGC	XP_005251830.1:n.-233_-232delinsGC
XM_005251776.3:c.-255_-254delinsGC	XP_005251833.1:n.-255_-254delinsGC
XM_011518339.3:c.-233_-232delinsGC	XP_011516641.1:n.-233_-232delinsGC
XM_011518341.3:c.-233_-232delinsGC	XP_011516643.1:n.-233_-232delinsGC
XM_011518342.3:c.-296_-295delinsGC	XP_011516644.1:n.-296_-295delinsGC
XM_011518344.2:c.-233_-232delinsGC	XP_011516646.1:n.-233_-232delinsGC
XR_001746223.1:n.81_82delinsGC
XR_930204.2:n.115+164_115+165delinsGC
NM_005502.4:c.-233_-232delinsGC MANE Select	NP_005493.2:n.-233_-232delinsGC