Canonical Allele Identifier: CA645518246

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846280-TG-T
• COSMIC: COSM5353910

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846283del , CM000664.2:g.43846283del	GRCh38
NC_000002.11:g.44073422del , CM000664.1:g.44073422del	GRCh37
NC_000002.10:g.43926926del	NCBI36
NG_008884.1:g.12320del
NG_008884.2:g.19342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.294del MANE Select	ENSP00000272286.2:p.Gln99ArgfsTer6
ENST00000643284.1:n.751del
ENST00000644611.1:c.306del	ENSP00000495423.1:p.Gln103ArgfsTer6
ENST00000272286.2:c.294del	ENSP00000272286.2:p.Gln99ArgfsTer6
NM_022437.2:c.294del	NP_071882.1:p.Gln99ArgfsTer6
XM_005264483.2:c.294del	XP_005264540.1:p.Gln99ArgfsTer6
XM_011533029.1:c.306del	XP_011531331.1:p.Gln103ArgfsTer6
XM_011533030.1:c.306del	XP_011531332.1:p.Gln103ArgfsTer6
XM_011533031.1:c.78del	XP_011531333.1:p.Gln27ArgfsTer6
XR_939707.1:n.796del
NM_001357321.1:c.294del	NP_001344250.1:p.Gln99ArgfsTer6
XM_011533029.2:c.306del	XP_011531331.1:p.Gln103ArgfsTer6
XM_011533030.2:c.306del	XP_011531332.1:p.Gln103ArgfsTer6
XR_001738891.1:n.810del
XR_939707.2:n.810del
NM_022437.3:c.294del MANE Select	NP_071882.1:p.Gln99ArgfsTer6
NM_001357321.2:c.294del	NP_001344250.1:p.Gln99ArgfsTer6