Canonical Allele Identifier: CA2691053480

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104831887-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831889_104831890del , CM000671.2:g.104831889_104831890del	GRCh38
NC_000009.11:g.107594170_107594171del , CM000671.1:g.107594170_107594171del	GRCh37
NC_000009.10:g.106633991_106633992del	NCBI36
NG_007981.1:g.101267_101268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1510-62_1510-61del MANE Select	ENSP00000363868.3:n.1510-62_1510-61del
ENST00000678995.1:c.1510-62_1510-61del	ENSP00000504612.1:n.1510-62_1510-61del
ENST00000374736.7:c.1510-62_1510-61del	ENSP00000363868.3:n.1510-62_1510-61del
NM_005502.3:c.1510-62_1510-61del	NP_005493.2:n.1510-62_1510-61del
XM_005251773.1:c.1510-62_1510-61del	XP_005251830.1:n.1510-62_1510-61del
XM_005251776.1:c.1330-62_1330-61del	XP_005251833.1:n.1330-62_1330-61del
XM_011518339.1:c.1585-62_1585-61del	XP_011516641.1:n.1585-62_1585-61del
XM_011518340.1:c.1585-62_1585-61del	XP_011516642.1:n.1585-62_1585-61del
XM_011518341.1:c.1585-62_1585-61del	XP_011516643.1:n.1585-62_1585-61del
XM_011518342.1:c.1147-62_1147-61del	XP_011516644.1:n.1147-62_1147-61del
XM_011518343.1:c.1585-62_1585-61del	XP_011516645.1:n.1585-62_1585-61del
XM_011518344.1:c.1585-62_1585-61del	XP_011516646.1:n.1585-62_1585-61del
XM_005251773.3:c.1510-62_1510-61del	XP_005251830.1:n.1510-62_1510-61del
XM_005251776.3:c.1330-62_1330-61del	XP_005251833.1:n.1330-62_1330-61del
XM_011518339.3:c.1585-62_1585-61del	XP_011516641.1:n.1585-62_1585-61del
XM_011518340.3:c.1585-62_1585-61del	XP_011516642.1:n.1585-62_1585-61del
XM_011518341.3:c.1585-62_1585-61del	XP_011516643.1:n.1585-62_1585-61del
XM_011518342.3:c.1147-62_1147-61del	XP_011516644.1:n.1147-62_1147-61del
XM_011518344.2:c.1585-62_1585-61del	XP_011516646.1:n.1585-62_1585-61del
XM_017014378.2:c.1585-62_1585-61del	XP_016869867.1:n.1585-62_1585-61del
XM_017014379.2:c.1585-62_1585-61del	XP_016869868.1:n.1585-62_1585-61del
XM_017014380.2:c.1585-62_1585-61del	XP_016869869.1:n.1585-62_1585-61del
XM_017014381.2:c.1585-62_1585-61del	XP_016869870.1:n.1585-62_1585-61del
XM_017014382.2:c.1447-62_1447-61del	XP_016869871.1:n.1447-62_1447-61del
XR_001746223.1:n.1898-62_1898-61del
NM_005502.4:c.1510-62_1510-61del MANE Select	NP_005493.2:n.1510-62_1510-61del