Canonical Allele Identifier: CA2720366265

Gene: ABCA1

Linked Data

• dbSNP Id: rs2119007295

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831914_104831916del , CM000671.2:g.104831914_104831916del	GRCh38
NC_000009.11:g.107594195_107594197del , CM000671.1:g.107594195_107594197del	GRCh37
NC_000009.10:g.106634016_106634018del	NCBI36
NG_007981.1:g.101241_101243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1510-88_1510-86del MANE Select	ENSP00000363868.3:n.1510-88_1510-86del
ENST00000678995.1:c.1510-88_1510-86del	ENSP00000504612.1:n.1510-88_1510-86del
ENST00000374736.7:c.1510-88_1510-86del	ENSP00000363868.3:n.1510-88_1510-86del
NM_005502.3:c.1510-88_1510-86del	NP_005493.2:n.1510-88_1510-86del
XM_005251773.1:c.1510-88_1510-86del	XP_005251830.1:n.1510-88_1510-86del
XM_005251776.1:c.1330-88_1330-86del	XP_005251833.1:n.1330-88_1330-86del
XM_011518339.1:c.1585-88_1585-86del	XP_011516641.1:n.1585-88_1585-86del
XM_011518340.1:c.1585-88_1585-86del	XP_011516642.1:n.1585-88_1585-86del
XM_011518341.1:c.1585-88_1585-86del	XP_011516643.1:n.1585-88_1585-86del
XM_011518342.1:c.1147-88_1147-86del	XP_011516644.1:n.1147-88_1147-86del
XM_011518343.1:c.1585-88_1585-86del	XP_011516645.1:n.1585-88_1585-86del
XM_011518344.1:c.1585-88_1585-86del	XP_011516646.1:n.1585-88_1585-86del
XM_005251773.3:c.1510-88_1510-86del	XP_005251830.1:n.1510-88_1510-86del
XM_005251776.3:c.1330-88_1330-86del	XP_005251833.1:n.1330-88_1330-86del
XM_011518339.3:c.1585-88_1585-86del	XP_011516641.1:n.1585-88_1585-86del
XM_011518340.3:c.1585-88_1585-86del	XP_011516642.1:n.1585-88_1585-86del
XM_011518341.3:c.1585-88_1585-86del	XP_011516643.1:n.1585-88_1585-86del
XM_011518342.3:c.1147-88_1147-86del	XP_011516644.1:n.1147-88_1147-86del
XM_011518344.2:c.1585-88_1585-86del	XP_011516646.1:n.1585-88_1585-86del
XM_017014378.2:c.1585-88_1585-86del	XP_016869867.1:n.1585-88_1585-86del
XM_017014379.2:c.1585-88_1585-86del	XP_016869868.1:n.1585-88_1585-86del
XM_017014380.2:c.1585-88_1585-86del	XP_016869869.1:n.1585-88_1585-86del
XM_017014381.2:c.1585-88_1585-86del	XP_016869870.1:n.1585-88_1585-86del
XM_017014382.2:c.1447-88_1447-86del	XP_016869871.1:n.1447-88_1447-86del
XR_001746223.1:n.1898-88_1898-86del
NM_005502.4:c.1510-88_1510-86del MANE Select	NP_005493.2:n.1510-88_1510-86del