Canonical Allele Identifier: CA589847742

Gene: ABCA1

Linked Data

• dbSNP Id: rs1180062408
• gnomAD v2: 9-107624268-TGGTAACATGTTGA-T
• gnomAD v3: 9-104861987-TGGTAACATGTTGA-T
• gnomAD v4: 9-104861987-TGGTAACATGTTGA-T
• MyVariant Identifiers: chr9:g.107624269_107624281del (hg19) ; chr9:g.104861988_104862000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104861989_104862001del , CM000671.2:g.104861989_104862001del	GRCh38
NC_000009.11:g.107624270_107624282del , CM000671.1:g.107624270_107624282del	GRCh37
NC_000009.10:g.106664091_106664103del	NCBI36
NG_007981.1:g.71156_71168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.422-200_422-188del MANE Select	ENSP00000363868.3:n.422-200_422-188del
ENST00000678995.1:c.422-200_422-188del	ENSP00000504612.1:n.422-200_422-188del
ENST00000374733.1:c.242-200_242-188del	ENSP00000363865.1:n.242-200_242-188del
ENST00000374736.7:c.422-200_422-188del	ENSP00000363868.3:n.422-200_422-188del
ENST00000423487.6:c.422-200_422-188del	ENSP00000416623.2:n.422-200_422-188del
NM_005502.3:c.422-200_422-188del	NP_005493.2:n.422-200_422-188del
XM_005251773.1:c.422-200_422-188del	XP_005251830.1:n.422-200_422-188del
XM_005251776.1:c.242-200_242-188del	XP_005251833.1:n.242-200_242-188del
XM_011518339.1:c.497-200_497-188del	XP_011516641.1:n.497-200_497-188del
XM_011518340.1:c.497-200_497-188del	XP_011516642.1:n.497-200_497-188del
XM_011518341.1:c.497-200_497-188del	XP_011516643.1:n.497-200_497-188del
XM_011518342.1:c.59-200_59-188del	XP_011516644.1:n.59-200_59-188del
XM_011518343.1:c.497-200_497-188del	XP_011516645.1:n.497-200_497-188del
XM_011518344.1:c.497-200_497-188del	XP_011516646.1:n.497-200_497-188del
XM_005251773.3:c.422-200_422-188del	XP_005251830.1:n.422-200_422-188del
XM_005251776.3:c.242-200_242-188del	XP_005251833.1:n.242-200_242-188del
XM_011518339.3:c.497-200_497-188del	XP_011516641.1:n.497-200_497-188del
XM_011518340.3:c.497-200_497-188del	XP_011516642.1:n.497-200_497-188del
XM_011518341.3:c.497-200_497-188del	XP_011516643.1:n.497-200_497-188del
XM_011518342.3:c.59-200_59-188del	XP_011516644.1:n.59-200_59-188del
XM_011518344.2:c.497-200_497-188del	XP_011516646.1:n.497-200_497-188del
XM_017014378.2:c.497-200_497-188del	XP_016869867.1:n.497-200_497-188del
XM_017014379.2:c.497-200_497-188del	XP_016869868.1:n.497-200_497-188del
XM_017014380.2:c.497-200_497-188del	XP_016869869.1:n.497-200_497-188del
XM_017014381.2:c.497-200_497-188del	XP_016869870.1:n.497-200_497-188del
XM_017014382.2:c.359-200_359-188del	XP_016869871.1:n.359-200_359-188del
XR_001746223.1:n.810-200_810-188del
NM_005502.4:c.422-200_422-188del MANE Select	NP_005493.2:n.422-200_422-188del