Canonical Allele Identifier: CA2579406190

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798413_104798414del , CM000671.2:g.104798413_104798414del	GRCh38
NC_000009.11:g.107560694_107560695del , CM000671.1:g.107560694_107560695del	GRCh37
NC_000009.10:g.106600515_106600516del	NCBI36
NG_007981.1:g.134745_134746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.5121+10_5121+11del MANE Select	ENSP00000363868.3:n.5121+10_5121+11del
ENST00000678995.1:c.5127+10_5127+11del	ENSP00000504612.1:n.5127+10_5127+11del
ENST00000374736.7:c.5121+10_5121+11del	ENSP00000363868.3:n.5121+10_5121+11del
NM_005502.3:c.5121+10_5121+11del	NP_005493.2:n.5121+10_5121+11del
XM_005251773.1:c.5127+10_5127+11del	XP_005251830.1:n.5127+10_5127+11del
XM_005251776.1:c.4947+10_4947+11del	XP_005251833.1:n.4947+10_4947+11del
XM_011518339.1:c.5202+10_5202+11del	XP_011516641.1:n.5202+10_5202+11del
XM_011518340.1:c.5202+10_5202+11del	XP_011516642.1:n.5202+10_5202+11del
XM_011518341.1:c.5196+10_5196+11del	XP_011516643.1:n.5196+10_5196+11del
XM_011518342.1:c.4764+10_4764+11del	XP_011516644.1:n.4764+10_4764+11del
XM_011518343.1:c.5202+10_5202+11del	XP_011516645.1:n.5202+10_5202+11del
XM_005251773.3:c.5127+10_5127+11del	XP_005251830.1:n.5127+10_5127+11del
XM_005251776.3:c.4947+10_4947+11del	XP_005251833.1:n.4947+10_4947+11del
XM_011518339.3:c.5202+10_5202+11del	XP_011516641.1:n.5202+10_5202+11del
XM_011518340.3:c.5202+10_5202+11del	XP_011516642.1:n.5202+10_5202+11del
XM_011518341.3:c.5196+10_5196+11del	XP_011516643.1:n.5196+10_5196+11del
XM_011518342.3:c.4764+10_4764+11del	XP_011516644.1:n.4764+10_4764+11del
XM_017014378.2:c.5202+10_5202+11del	XP_016869867.1:n.5202+10_5202+11del
XM_017014379.2:c.5202+10_5202+11del	XP_016869868.1:n.5202+10_5202+11del
XM_017014380.2:c.5202+10_5202+11del	XP_016869869.1:n.5202+10_5202+11del
XM_017014381.2:c.5202+10_5202+11del	XP_016869870.1:n.5202+10_5202+11del
XM_017014382.2:c.5064+10_5064+11del	XP_016869871.1:n.5064+10_5064+11del
XR_001746223.1:n.5515+10_5515+11del
NM_005502.4:c.5121+10_5121+11del MANE Select	NP_005493.2:n.5121+10_5121+11del