Canonical Allele Identifier: CA2390736107
Gene: ABCG1 HGNC NCBI

Linked Data

dbSNP Id: rs2069218914

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42296714del , CM000683.2:g.42296714del GRCh38
NC_000021.8:g.43716824del , CM000683.1:g.43716824del GRCh37
NC_000021.7:g.42589893del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398449.8:c.*322del MANE Select ENSP00000381467.3:n.*322del
ENST00000343687.7:c.*322del ENSP00000339744.3:n.*322del
ENST00000347800.6:c.*322del ENSP00000291524.4:n.*322del
ENST00000361802.6:c.*322del ENSP00000354995.2:n.*322del
ENST00000398437.1:c.*322del ENSP00000381464.1:n.*322del
ENST00000398449.7:c.*322del ENSP00000381467.3:n.*322del
ENST00000398457.6:c.*322del ENSP00000381475.2:n.*322del
ENST00000462050.5:n.2507del
ENST00000472587.5:n.2373del
NM_004915.3:c.*322del NP_004906.3:n.*322del
NM_016818.2:c.*322del NP_058198.2:n.*322del
NM_207174.1:c.*322del NP_997057.1:n.*322del
NM_207627.1:c.*322del NP_997510.1:n.*322del
NM_207628.1:c.*322del NP_997511.1:n.*322del
NM_207629.1:c.*322del NP_997512.1:n.*322del
XM_011529806.1:c.*322del XP_011528108.1:n.*322del
XM_011529807.1:c.*488del XP_011528109.1:n.*488del
XM_011529807.3:c.*488del XP_011528109.1:n.*488del
XM_024452141.1:c.*322del XP_024307909.1:n.*322del
NM_004915.4:c.*322del NP_004906.3:n.*322del
NM_016818.3:c.*322del MANE Select NP_058198.2:n.*322del
NM_207627.2:c.*322del NP_997510.1:n.*322del
NM_207629.2:c.*322del NP_997512.1:n.*322del