Canonical Allele Identifier: CA1127650578

Gene: ABCA1

Linked Data

• dbSNP Id: rs1830078155
• gnomAD v3: 9-104798438-TAGAG-T
• gnomAD v4: 9-104798438-TAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798441_104798444del , CM000671.2:g.104798441_104798444del	GRCh38
NC_000009.11:g.107560722_107560725del , CM000671.1:g.107560722_107560725del	GRCh37
NC_000009.10:g.106600543_106600546del	NCBI36
NG_007981.1:g.134714_134717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5100_5103del MANE Select	ENSP00000363868.3:p.Ser1701IlefsTer?
ENST00000678995.1:c.5106_5109del	ENSP00000504612.1:p.Ser1703IlefsTer?
ENST00000374736.7:c.5100_5103del	ENSP00000363868.3:p.Ser1701IlefsTer?
NM_005502.3:c.5100_5103del	NP_005493.2:p.Ser1701IlefsTer?
XM_005251773.1:c.5106_5109del	XP_005251830.1:p.Ser1703IlefsTer?
XM_005251776.1:c.4926_4929del	XP_005251833.1:p.Ser1643IlefsTer?
XM_011518339.1:c.5181_5184del	XP_011516641.1:p.Ser1728IlefsTer?
XM_011518340.1:c.5181_5184del	XP_011516642.1:p.Ser1728IlefsTer?
XM_011518341.1:c.5175_5178del	XP_011516643.1:p.Ser1726IlefsTer?
XM_011518342.1:c.4743_4746del	XP_011516644.1:p.Ser1582IlefsTer?
XM_011518343.1:c.5181_5184del	XP_011516645.1:p.Ser1728IlefsTer?
XM_005251773.3:c.5106_5109del	XP_005251830.1:p.Ser1703IlefsTer?
XM_005251776.3:c.4926_4929del	XP_005251833.1:p.Ser1643IlefsTer?
XM_011518339.3:c.5181_5184del	XP_011516641.1:p.Ser1728IlefsTer?
XM_011518340.3:c.5181_5184del	XP_011516642.1:p.Ser1728IlefsTer?
XM_011518341.3:c.5175_5178del	XP_011516643.1:p.Ser1726IlefsTer?
XM_011518342.3:c.4743_4746del	XP_011516644.1:p.Ser1582IlefsTer?
XM_017014378.2:c.5181_5184del	XP_016869867.1:p.Ser1728IlefsTer?
XM_017014379.2:c.5181_5184del	XP_016869868.1:p.Ser1728IlefsTer?
XM_017014380.2:c.5181_5184del	XP_016869869.1:p.Ser1728IlefsTer?
XM_017014381.2:c.5181_5184del	XP_016869870.1:p.Ser1728IlefsTer?
XM_017014382.2:c.5043_5046del	XP_016869871.1:p.Ser1682IlefsTer?
XR_001746223.1:n.5494_5497del
NM_005502.4:c.5100_5103del MANE Select	NP_005493.2:p.Ser1701IlefsTer?