Canonical Allele Identifier: CA2654674503
Gene: ABCG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42296622_42296623insA , CM000683.2:g.42296622_42296623insA GRCh38
NC_000021.8:g.43716732_43716733insA , CM000683.1:g.43716732_43716733insA GRCh37
NC_000021.7:g.42589801_42589802insA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398449.8:c.*230_*231insA MANE Select ENSP00000381467.3:n.*230_*231insA
ENST00000343687.7:c.*230_*231insA ENSP00000339744.3:n.*230_*231insA
ENST00000347800.6:c.*230_*231insA ENSP00000291524.4:n.*230_*231insA
ENST00000361802.6:c.*230_*231insA ENSP00000354995.2:n.*230_*231insA
ENST00000398437.1:c.*230_*231insA ENSP00000381464.1:n.*230_*231insA
ENST00000398449.7:c.*230_*231insA ENSP00000381467.3:n.*230_*231insA
ENST00000398457.6:c.*230_*231insA ENSP00000381475.2:n.*230_*231insA
ENST00000462050.5:n.2415_2416insA
ENST00000472587.5:n.2281_2282insA
NM_004915.3:c.*230_*231insA NP_004906.3:n.*230_*231insA
NM_016818.2:c.*230_*231insA NP_058198.2:n.*230_*231insA
NM_207174.1:c.*230_*231insA NP_997057.1:n.*230_*231insA
NM_207627.1:c.*230_*231insA NP_997510.1:n.*230_*231insA
NM_207628.1:c.*230_*231insA NP_997511.1:n.*230_*231insA
NM_207629.1:c.*230_*231insA NP_997512.1:n.*230_*231insA
XM_011529806.1:c.*230_*231insA XP_011528108.1:n.*230_*231insA
XM_011529807.1:c.*396_*397insA XP_011528109.1:n.*396_*397insA
XM_011529807.3:c.*396_*397insA XP_011528109.1:n.*396_*397insA
XM_024452141.1:c.*230_*231insA XP_024307909.1:n.*230_*231insA
NM_004915.4:c.*230_*231insA NP_004906.3:n.*230_*231insA
NM_016818.3:c.*230_*231insA MANE Select NP_058198.2:n.*230_*231insA
NM_207627.2:c.*230_*231insA NP_997510.1:n.*230_*231insA
NM_207629.2:c.*230_*231insA NP_997512.1:n.*230_*231insA