Canonical Allele Identifier: CA5168961

Gene: ABCA1

Linked Data

• dbSNP Id: rs761127243
• ExAC: 9:107593981 A / ATGC
• gnomAD v2: 9-107593981-A-ATGC
• gnomAD v3: 9-104831700-A-ATGC
• gnomAD v4: 9-104831700-A-ATGC
• MyVariant Identifiers: chr9:g.107593981_107593982insTGC (hg19) ; chr9:g.104831700_104831701insTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831704_104831706dup , CM000671.2:g.104831704_104831706dup	GRCh38
NC_000009.11:g.107593985_107593987dup , CM000671.1:g.107593985_107593987dup	GRCh37
NC_000009.10:g.106633806_106633808dup	NCBI36
NG_007981.1:g.101453_101455dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1634_1636dup MANE Select	ENSP00000363868.3:p.Ser545_Ile546insSer
ENST00000678995.1:c.1634_1636dup	ENSP00000504612.1:p.Ser545_Ile546insSer
ENST00000374736.7:c.1634_1636dup	ENSP00000363868.3:p.Ser545_Ile546insSer
NM_005502.3:c.1634_1636dup	NP_005493.2:p.Ser545_Ile546insSer
XM_005251773.1:c.1634_1636dup	XP_005251830.1:p.Ser545_Ile546insSer
XM_005251776.1:c.1454_1456dup	XP_005251833.1:p.Ser485_Ile486insSer
XM_011518339.1:c.1709_1711dup	XP_011516641.1:p.Ser570_Ile571insSer
XM_011518340.1:c.1709_1711dup	XP_011516642.1:p.Ser570_Ile571insSer
XM_011518341.1:c.1709_1711dup	XP_011516643.1:p.Ser570_Ile571insSer
XM_011518342.1:c.1271_1273dup	XP_011516644.1:p.Ser424_Ile425insSer
XM_011518343.1:c.1709_1711dup	XP_011516645.1:p.Ser570_Ile571insSer
XM_011518344.1:c.1709_1711dup	XP_011516646.1:p.Ser570_Ile571insSer
XM_005251773.3:c.1634_1636dup	XP_005251830.1:p.Ser545_Ile546insSer
XM_005251776.3:c.1454_1456dup	XP_005251833.1:p.Ser485_Ile486insSer
XM_011518339.3:c.1709_1711dup	XP_011516641.1:p.Ser570_Ile571insSer
XM_011518340.3:c.1709_1711dup	XP_011516642.1:p.Ser570_Ile571insSer
XM_011518341.3:c.1709_1711dup	XP_011516643.1:p.Ser570_Ile571insSer
XM_011518342.3:c.1271_1273dup	XP_011516644.1:p.Ser424_Ile425insSer
XM_011518344.2:c.1709_1711dup	XP_011516646.1:p.Ser570_Ile571insSer
XM_017014378.2:c.1709_1711dup	XP_016869867.1:p.Ser570_Ile571insSer
XM_017014379.2:c.1709_1711dup	XP_016869868.1:p.Ser570_Ile571insSer
XM_017014380.2:c.1709_1711dup	XP_016869869.1:p.Ser570_Ile571insSer
XM_017014381.2:c.1709_1711dup	XP_016869870.1:p.Ser570_Ile571insSer
XM_017014382.2:c.1571_1573dup	XP_016869871.1:p.Ser524_Ile525insSer
XR_001746223.1:n.2022_2024dup
NM_005502.4:c.1634_1636dup MANE Select	NP_005493.2:p.Ser545_Ile546insSer