Canonical Allele Identifier: CA2658838102

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877834-TTGGCCTCAGCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877839_43877850del , CM000664.2:g.43877839_43877850del	GRCh38
NC_000002.11:g.44104978_44104989del , CM000664.1:g.44104978_44104989del	GRCh37
NC_000002.10:g.43958482_43958493del	NCBI36
NG_008884.1:g.43876_43887del
NG_008884.2:g.50898_50909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1948_1959del MANE Select	ENSP00000272286.2:p.Leu650_Gly653del
ENST00000272286.2:c.1948_1959del	ENSP00000272286.2:p.Leu650_Gly653del
NM_022437.2:c.1948_1959del	NP_071882.1:p.Leu650_Gly653del
XM_005264483.2:c.1945_1956del	XP_005264540.1:p.Leu649_Gly652del
XM_011533029.1:c.1960_1971del	XP_011531331.1:p.Leu654_Gly657del
XM_011533030.1:c.1957_1968del	XP_011531332.1:p.Leu653_Gly656del
XM_011533031.1:c.1732_1743del	XP_011531333.1:p.Leu578_Gly581del
XR_939707.1:n.2450_2461del
NM_001357321.1:c.1945_1956del	NP_001344250.1:p.Leu649_Gly652del
XM_011533029.2:c.1960_1971del	XP_011531331.1:p.Leu654_Gly657del
XM_011533030.2:c.1957_1968del	XP_011531332.1:p.Leu653_Gly656del
XR_001738891.1:n.2464_2475del
XR_939707.2:n.2464_2475del
NM_022437.3:c.1948_1959del MANE Select	NP_071882.1:p.Leu650_Gly653del
NM_001357321.2:c.1945_1956del	NP_001344250.1:p.Leu649_Gly652del