Canonical Allele Identifier: CA2691056164

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104829247-ACAGAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104829248_104829253del , CM000671.2:g.104829248_104829253del	GRCh38
NC_000009.11:g.107591529_107591534del , CM000671.1:g.107591529_107591534del	GRCh37
NC_000009.10:g.106631350_106631355del	NCBI36
NG_007981.1:g.103903_103908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1893-115_1893-110del MANE Select	ENSP00000363868.3:n.1893-115_1893-110del
ENST00000678995.1:c.1893-115_1893-110del	ENSP00000504612.1:n.1893-115_1893-110del
ENST00000374736.7:c.1893-115_1893-110del	ENSP00000363868.3:n.1893-115_1893-110del
ENST00000494467.1:n.66-115_66-110del
NM_005502.3:c.1893-115_1893-110del	NP_005493.2:n.1893-115_1893-110del
XM_005251773.1:c.1893-115_1893-110del	XP_005251830.1:n.1893-115_1893-110del
XM_005251776.1:c.1713-115_1713-110del	XP_005251833.1:n.1713-115_1713-110del
XM_011518339.1:c.1968-115_1968-110del	XP_011516641.1:n.1968-115_1968-110del
XM_011518340.1:c.1968-115_1968-110del	XP_011516642.1:n.1968-115_1968-110del
XM_011518341.1:c.1968-115_1968-110del	XP_011516643.1:n.1968-115_1968-110del
XM_011518342.1:c.1530-115_1530-110del	XP_011516644.1:n.1530-115_1530-110del
XM_011518343.1:c.1968-115_1968-110del	XP_011516645.1:n.1968-115_1968-110del
XM_011518344.1:c.1968-115_1968-110del	XP_011516646.1:n.1968-115_1968-110del
XM_005251773.3:c.1893-115_1893-110del	XP_005251830.1:n.1893-115_1893-110del
XM_005251776.3:c.1713-115_1713-110del	XP_005251833.1:n.1713-115_1713-110del
XM_011518339.3:c.1968-115_1968-110del	XP_011516641.1:n.1968-115_1968-110del
XM_011518340.3:c.1968-115_1968-110del	XP_011516642.1:n.1968-115_1968-110del
XM_011518341.3:c.1968-115_1968-110del	XP_011516643.1:n.1968-115_1968-110del
XM_011518342.3:c.1530-115_1530-110del	XP_011516644.1:n.1530-115_1530-110del
XM_011518344.2:c.1968-115_1968-110del	XP_011516646.1:n.1968-115_1968-110del
XM_017014378.2:c.1968-115_1968-110del	XP_016869867.1:n.1968-115_1968-110del
XM_017014379.2:c.1968-115_1968-110del	XP_016869868.1:n.1968-115_1968-110del
XM_017014380.2:c.1968-115_1968-110del	XP_016869869.1:n.1968-115_1968-110del
XM_017014381.2:c.1968-115_1968-110del	XP_016869870.1:n.1968-115_1968-110del
XM_017014382.2:c.1830-115_1830-110del	XP_016869871.1:n.1830-115_1830-110del
XR_001746223.1:n.2281-115_2281-110del
NM_005502.4:c.1893-115_1893-110del MANE Select	NP_005493.2:n.1893-115_1893-110del