Canonical Allele Identifier: CA1869920285

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104829051_104829052delinsCA , CM000671.2:g.104829051_104829052delinsCA	GRCh38
NC_000009.11:g.107591332_107591333delinsCA , CM000671.1:g.107591332_107591333delinsCA	GRCh37
NC_000009.10:g.106631153_106631154delinsCA	NCBI36
NG_007981.1:g.104104_104105delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1979_1980delinsTG MANE Select	ENSP00000363868.3:p.Val660=
ENST00000678995.1:c.1979_1980delinsTG	ENSP00000504612.1:p.Val660=
ENST00000374736.7:c.1979_1980delinsTG	ENSP00000363868.3:p.Val660=
ENST00000494467.1:n.152_153delinsTG
NM_005502.3:c.1979_1980delinsTG	NP_005493.2:p.Val660=
XM_005251773.1:c.1979_1980delinsTG	XP_005251830.1:p.Val660=
XM_005251776.1:c.1799_1800delinsTG	XP_005251833.1:p.Val600=
XM_011518339.1:c.2054_2055delinsTG	XP_011516641.1:p.Val685=
XM_011518340.1:c.2054_2055delinsTG	XP_011516642.1:p.Val685=
XM_011518341.1:c.2054_2055delinsTG	XP_011516643.1:p.Val685=
XM_011518342.1:c.1616_1617delinsTG	XP_011516644.1:p.Val539=
XM_011518343.1:c.2054_2055delinsTG	XP_011516645.1:p.Val685=
XM_011518344.1:c.2054_2055delinsTG	XP_011516646.1:p.Val685=
XM_005251773.3:c.1979_1980delinsTG	XP_005251830.1:p.Val660=
XM_005251776.3:c.1799_1800delinsTG	XP_005251833.1:p.Val600=
XM_011518339.3:c.2054_2055delinsTG	XP_011516641.1:p.Val685=
XM_011518340.3:c.2054_2055delinsTG	XP_011516642.1:p.Val685=
XM_011518341.3:c.2054_2055delinsTG	XP_011516643.1:p.Val685=
XM_011518342.3:c.1616_1617delinsTG	XP_011516644.1:p.Val539=
XM_011518344.2:c.2054_2055delinsTG	XP_011516646.1:p.Val685=
XM_017014378.2:c.2054_2055delinsTG	XP_016869867.1:p.Val685=
XM_017014379.2:c.2054_2055delinsTG	XP_016869868.1:p.Val685=
XM_017014380.2:c.2054_2055delinsTG	XP_016869869.1:p.Val685=
XM_017014381.2:c.2054_2055delinsTG	XP_016869870.1:p.Val685=
XM_017014382.2:c.1916_1917delinsTG	XP_016869871.1:p.Val639=
XR_001746223.1:n.2367_2368delinsTG
NM_005502.4:c.1979_1980delinsTG MANE Select	NP_005493.2:p.Val660=