Canonical Allele Identifier: CA1869920028

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104828948_104828951delinsCAAG , CM000671.2:g.104828948_104828951delinsCAAG	GRCh38
NC_000009.11:g.107591229_107591232delinsCAAG , CM000671.1:g.107591229_107591232delinsCAAG	GRCh37
NC_000009.10:g.106631050_106631053delinsCAAG	NCBI36
NG_007981.1:g.104205_104208delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2080_2083delinsCTTG MANE Select	ENSP00000363868.3:p.Leu694=
ENST00000678995.1:c.2080_2083delinsCTTG	ENSP00000504612.1:p.Leu694=
ENST00000374736.7:c.2080_2083delinsCTTG	ENSP00000363868.3:p.Leu694=
ENST00000494467.1:n.253_256delinsCTTG
NM_005502.3:c.2080_2083delinsCTTG	NP_005493.2:p.Leu694=
XM_005251773.1:c.2080_2083delinsCTTG	XP_005251830.1:p.Leu694=
XM_005251776.1:c.1900_1903delinsCTTG	XP_005251833.1:p.Leu634=
XM_011518339.1:c.2155_2158delinsCTTG	XP_011516641.1:p.Leu719=
XM_011518340.1:c.2155_2158delinsCTTG	XP_011516642.1:p.Leu719=
XM_011518341.1:c.2155_2158delinsCTTG	XP_011516643.1:p.Leu719=
XM_011518342.1:c.1717_1720delinsCTTG	XP_011516644.1:p.Leu573=
XM_011518343.1:c.2155_2158delinsCTTG	XP_011516645.1:p.Leu719=
XM_011518344.1:c.2155_2158delinsCTTG	XP_011516646.1:p.Leu719=
XM_005251773.3:c.2080_2083delinsCTTG	XP_005251830.1:p.Leu694=
XM_005251776.3:c.1900_1903delinsCTTG	XP_005251833.1:p.Leu634=
XM_011518339.3:c.2155_2158delinsCTTG	XP_011516641.1:p.Leu719=
XM_011518340.3:c.2155_2158delinsCTTG	XP_011516642.1:p.Leu719=
XM_011518341.3:c.2155_2158delinsCTTG	XP_011516643.1:p.Leu719=
XM_011518342.3:c.1717_1720delinsCTTG	XP_011516644.1:p.Leu573=
XM_011518344.2:c.2155_2158delinsCTTG	XP_011516646.1:p.Leu719=
XM_017014378.2:c.2155_2158delinsCTTG	XP_016869867.1:p.Leu719=
XM_017014379.2:c.2155_2158delinsCTTG	XP_016869868.1:p.Leu719=
XM_017014380.2:c.2155_2158delinsCTTG	XP_016869869.1:p.Leu719=
XM_017014381.2:c.2155_2158delinsCTTG	XP_016869870.1:p.Leu719=
XM_017014382.2:c.2017_2020delinsCTTG	XP_016869871.1:p.Leu673=
XR_001746223.1:n.2468_2471delinsCTTG
NM_005502.4:c.2080_2083delinsCTTG MANE Select	NP_005493.2:p.Leu694=