Canonical Allele Identifier: CA2576953580

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839083del , CM000664.2:g.43839083del	GRCh38
NC_000002.11:g.44066222del , CM000664.1:g.44066222del	GRCh37
NC_000002.10:g.43919726del	NCBI36
NG_008883.1:g.4739del
NG_008884.1:g.5120del
NG_008884.2:g.12142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.30del MANE Select	ENSP00000272286.2:p.Leu11CysfsTer?
ENST00000643284.1:n.521-5424del
ENST00000644611.1:c.76-5424del	ENSP00000495423.1:n.76-5424del
ENST00000272286.2:c.30del	ENSP00000272286.2:p.Leu11CysfsTer?
NM_022437.2:c.30del	NP_071882.1:p.Leu11CysfsTer?
XM_005264483.2:c.30del	XP_005264540.1:p.Leu11CysfsTer?
XM_011533029.1:c.76-5424del	XP_011531331.1:n.76-5424del
XM_011533030.1:c.76-5424del	XP_011531332.1:n.76-5424del
XM_011533031.1:c.-153-5424del	XP_011531333.1:n.-153-5424del
XR_939707.1:n.566-5424del
NM_001357321.1:c.30del	NP_001344250.1:p.Leu11CysfsTer?
XM_011533029.2:c.76-5424del	XP_011531331.1:n.76-5424del
XM_011533030.2:c.76-5424del	XP_011531332.1:n.76-5424del
XR_001738891.1:n.580-5424del
XR_939707.2:n.580-5424del
NM_022437.3:c.30del MANE Select	NP_071882.1:p.Leu11CysfsTer?
NM_001357321.2:c.30del	NP_001344250.1:p.Leu11CysfsTer?