Canonical Allele Identifier: CA858048598

Gene: ABCA1

Linked Data

• dbSNP Id: rs1265081600
• gnomAD v3: 9-104828837-TTTC-T
• gnomAD v4: 9-104828837-TTTC-T
• MyVariant Identifiers: chr9:g.107591119_107591121del (hg19) ; chr9:g.104828838_104828840del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104828845_104828847del , CM000671.2:g.104828845_104828847del	GRCh38
NC_000009.11:g.107591126_107591128del , CM000671.1:g.107591126_107591128del	GRCh37
NC_000009.10:g.106630947_106630949del	NCBI36
NG_007981.1:g.104316_104318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2115+76_2115+78del MANE Select	ENSP00000363868.3:n.2115+76_2115+78del
ENST00000678995.1:c.2115+76_2115+78del	ENSP00000504612.1:n.2115+76_2115+78del
ENST00000374736.7:c.2115+76_2115+78del	ENSP00000363868.3:n.2115+76_2115+78del
ENST00000494467.1:n.288+76_288+78del
NM_005502.3:c.2115+76_2115+78del	NP_005493.2:n.2115+76_2115+78del
XM_005251773.1:c.2115+76_2115+78del	XP_005251830.1:n.2115+76_2115+78del
XM_005251776.1:c.1935+76_1935+78del	XP_005251833.1:n.1935+76_1935+78del
XM_011518339.1:c.2190+76_2190+78del	XP_011516641.1:n.2190+76_2190+78del
XM_011518340.1:c.2190+76_2190+78del	XP_011516642.1:n.2190+76_2190+78del
XM_011518341.1:c.2190+76_2190+78del	XP_011516643.1:n.2190+76_2190+78del
XM_011518342.1:c.1752+76_1752+78del	XP_011516644.1:n.1752+76_1752+78del
XM_011518343.1:c.2190+76_2190+78del	XP_011516645.1:n.2190+76_2190+78del
XM_011518344.1:c.2190+76_2190+78del	XP_011516646.1:n.2190+76_2190+78del
XM_005251773.3:c.2115+76_2115+78del	XP_005251830.1:n.2115+76_2115+78del
XM_005251776.3:c.1935+76_1935+78del	XP_005251833.1:n.1935+76_1935+78del
XM_011518339.3:c.2190+76_2190+78del	XP_011516641.1:n.2190+76_2190+78del
XM_011518340.3:c.2190+76_2190+78del	XP_011516642.1:n.2190+76_2190+78del
XM_011518341.3:c.2190+76_2190+78del	XP_011516643.1:n.2190+76_2190+78del
XM_011518342.3:c.1752+76_1752+78del	XP_011516644.1:n.1752+76_1752+78del
XM_011518344.2:c.2190+76_2190+78del	XP_011516646.1:n.2190+76_2190+78del
XM_017014378.2:c.2190+76_2190+78del	XP_016869867.1:n.2190+76_2190+78del
XM_017014379.2:c.2190+76_2190+78del	XP_016869868.1:n.2190+76_2190+78del
XM_017014380.2:c.2190+76_2190+78del	XP_016869869.1:n.2190+76_2190+78del
XM_017014381.2:c.2190+76_2190+78del	XP_016869870.1:n.2190+76_2190+78del
XM_017014382.2:c.2052+76_2052+78del	XP_016869871.1:n.2052+76_2052+78del
XR_001746223.1:n.2503+76_2503+78del
NM_005502.4:c.2115+76_2115+78del MANE Select	NP_005493.2:n.2115+76_2115+78del