Canonical Allele Identifier: CA2658838072

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877639-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877640_43877641dup , CM000664.2:g.43877640_43877641dup	GRCh38
NC_000002.11:g.44104779_44104780dup , CM000664.1:g.44104779_44104780dup	GRCh37
NC_000002.10:g.43958283_43958284dup	NCBI36
NG_008884.1:g.43677_43678dup
NG_008884.2:g.50699_50700dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1836_1837dup MANE Select	ENSP00000272286.2:p.Tyr613PhefsTer?
ENST00000272286.2:c.1836_1837dup	ENSP00000272286.2:p.Tyr613PhefsTer?
NM_022437.2:c.1836_1837dup	NP_071882.1:p.Tyr613PhefsTer?
XM_005264483.2:c.1833_1834dup	XP_005264540.1:p.Tyr612PhefsTer?
XM_011533029.1:c.1848_1849dup	XP_011531331.1:p.Tyr617PhefsTer?
XM_011533030.1:c.1845_1846dup	XP_011531332.1:p.Tyr616PhefsTer?
XM_011533031.1:c.1620_1621dup	XP_011531333.1:p.Tyr541PhefsTer?
XR_939707.1:n.2338_2339dup
NM_001357321.1:c.1833_1834dup	NP_001344250.1:p.Tyr612PhefsTer?
XM_011533029.2:c.1848_1849dup	XP_011531331.1:p.Tyr617PhefsTer?
XM_011533030.2:c.1845_1846dup	XP_011531332.1:p.Tyr616PhefsTer?
XR_001738891.1:n.2352_2353dup
XR_939707.2:n.2352_2353dup
NM_022437.3:c.1836_1837dup MANE Select	NP_071882.1:p.Tyr613PhefsTer?
NM_001357321.2:c.1833_1834dup	NP_001344250.1:p.Tyr612PhefsTer?