Canonical Allele Identifier: CA913184841

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 598444
• ClinVar RCV Id: RCV000734832
• dbSNP Id: rs1558796310

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844515_43844516delinsC , CM000664.2:g.43844515_43844516delinsC	GRCh38
NC_000002.11:g.44071654_44071655delinsC , CM000664.1:g.44071654_44071655delinsC	GRCh37
NC_000002.10:g.43925158_43925159delinsC	NCBI36
NG_008884.1:g.10552_10553delinsC
NG_008884.2:g.17574_17575delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.72_73delinsC MANE Select	ENSP00000272286.2:p.Gln24HisfsTer?
ENST00000643284.1:n.529_530delinsC
ENST00000644611.1:c.84_85delinsC	ENSP00000495423.1:p.Gln28HisfsTer?
ENST00000272286.2:c.72_73delinsC	ENSP00000272286.2:p.Gln24HisfsTer?
NM_022437.2:c.72_73delinsC	NP_071882.1:p.Gln24HisfsTer?
XM_005264483.2:c.72_73delinsC	XP_005264540.1:p.Gln24HisfsTer?
XM_011533029.1:c.84_85delinsC	XP_011531331.1:p.Gln28HisfsTer?
XM_011533030.1:c.84_85delinsC	XP_011531332.1:p.Gln28HisfsTer?
XM_011533031.1:c.-145_-144delinsC	XP_011531333.1:n.-145_-144delinsC
XR_939707.1:n.574_575delinsC
XR_940032.1:n.5_6delinsG
NM_001357321.1:c.72_73delinsC	NP_001344250.1:p.Gln24HisfsTer?
XM_011533029.2:c.84_85delinsC	XP_011531331.1:p.Gln28HisfsTer?
XM_011533030.2:c.84_85delinsC	XP_011531332.1:p.Gln28HisfsTer?
XR_001738891.1:n.588_589delinsC
XR_939707.2:n.588_589delinsC
XR_940032.3:n.5_6delinsG
NM_022437.3:c.72_73delinsC MANE Select	NP_071882.1:p.Gln24HisfsTer?
NM_001357321.2:c.72_73delinsC	NP_001344250.1:p.Gln24HisfsTer?