Canonical Allele Identifier: CA346670382

Gene: ABCG8

Linked Data

• dbSNP Id: rs1553384021
• MyVariant Identifiers: chr2:g.44102375del (hg19) ; chr2:g.43875237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875238del , CM000664.2:g.43875238del	GRCh38
NC_000002.11:g.44102377del , CM000664.1:g.44102377del	GRCh37
NC_000002.10:g.43955881del	NCBI36
NG_008884.1:g.41275del
NG_008884.2:g.48297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1581del MANE Select	ENSP00000272286.2:p.Phe528SerfsTer?
ENST00000272286.2:c.1581del	ENSP00000272286.2:p.Phe528SerfsTer?
NM_022437.2:c.1581del	NP_071882.1:p.Phe528SerfsTer?
XM_005264483.2:c.1578del	XP_005264540.1:p.Phe527SerfsTer?
XM_011533029.1:c.1593del	XP_011531331.1:p.Phe532SerfsTer?
XM_011533030.1:c.1590del	XP_011531332.1:p.Phe531SerfsTer?
XM_011533031.1:c.1365del	XP_011531333.1:p.Phe456SerfsTer?
XR_939707.1:n.2083del
NM_001357321.1:c.1578del	NP_001344250.1:p.Phe527SerfsTer?
XM_011533029.2:c.1593del	XP_011531331.1:p.Phe532SerfsTer?
XM_011533030.2:c.1590del	XP_011531332.1:p.Phe531SerfsTer?
XR_001738891.1:n.2097del
XR_939707.2:n.2097del
NM_022437.3:c.1581del MANE Select	NP_071882.1:p.Phe528SerfsTer?
NM_001357321.2:c.1578del	NP_001344250.1:p.Phe527SerfsTer?