Canonical Allele Identifier: CA2658838074

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877685-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877688dup , CM000664.2:g.43877688dup	GRCh38
NC_000002.11:g.44104827dup , CM000664.1:g.44104827dup	GRCh37
NC_000002.10:g.43958331dup	NCBI36
NG_008884.1:g.43725dup
NG_008884.2:g.50747dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1884dup MANE Select	ENSP00000272286.2:p.Ile629AsnfsTer?
ENST00000272286.2:c.1884dup	ENSP00000272286.2:p.Ile629AsnfsTer?
NM_022437.2:c.1884dup	NP_071882.1:p.Ile629AsnfsTer?
XM_005264483.2:c.1881dup	XP_005264540.1:p.Ile628AsnfsTer?
XM_011533029.1:c.1896dup	XP_011531331.1:p.Ile633AsnfsTer?
XM_011533030.1:c.1893dup	XP_011531332.1:p.Ile632AsnfsTer?
XM_011533031.1:c.1668dup	XP_011531333.1:p.Ile557AsnfsTer?
XR_939707.1:n.2386dup
NM_001357321.1:c.1881dup	NP_001344250.1:p.Ile628AsnfsTer?
XM_011533029.2:c.1896dup	XP_011531331.1:p.Ile633AsnfsTer?
XM_011533030.2:c.1893dup	XP_011531332.1:p.Ile632AsnfsTer?
XR_001738891.1:n.2400dup
XR_939707.2:n.2400dup
NM_022437.3:c.1884dup MANE Select	NP_071882.1:p.Ile629AsnfsTer?
NM_001357321.2:c.1881dup	NP_001344250.1:p.Ile628AsnfsTer?