Canonical Allele Identifier: CA2699306499

Gene: ABCG8

Linked Data

• dbSNP Id: rs2104952454

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877726del , CM000664.2:g.43877726del	GRCh38
NC_000002.11:g.44104865del , CM000664.1:g.44104865del	GRCh37
NC_000002.10:g.43958369del	NCBI36
NG_008884.1:g.43763del
NG_008884.2:g.50785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1884+38del MANE Select	ENSP00000272286.2:n.1884+38del
ENST00000272286.2:c.1884+38del	ENSP00000272286.2:n.1884+38del
NM_022437.2:c.1884+38del	NP_071882.1:n.1884+38del
XM_005264483.2:c.1881+38del	XP_005264540.1:n.1881+38del
XM_011533029.1:c.1896+38del	XP_011531331.1:n.1896+38del
XM_011533030.1:c.1893+38del	XP_011531332.1:n.1893+38del
XM_011533031.1:c.1668+38del	XP_011531333.1:n.1668+38del
XR_939707.1:n.2386+38del
NM_001357321.1:c.1881+38del	NP_001344250.1:n.1881+38del
XM_011533029.2:c.1896+38del	XP_011531331.1:n.1896+38del
XM_011533030.2:c.1893+38del	XP_011531332.1:n.1893+38del
XR_001738891.1:n.2400+38del
XR_939707.2:n.2400+38del
NM_022437.3:c.1884+38del MANE Select	NP_071882.1:n.1884+38del
NM_001357321.2:c.1881+38del	NP_001344250.1:n.1881+38del