Canonical Allele Identifier: CA2493965075

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877694_43877695delinsCG , CM000664.2:g.43877694_43877695delinsCG	GRCh38
NC_000002.11:g.44104833_44104834delinsCG , CM000664.1:g.44104833_44104834delinsCG	GRCh37
NC_000002.10:g.43958337_43958338delinsCG	NCBI36
NG_008884.1:g.43731_43732delinsCG
NG_008884.2:g.50753_50754delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1884+6_1884+7delinsCG MANE Select	ENSP00000272286.2:n.1884+6_1884+7delinsCG...
ENST00000272286.2:c.1884+6_1884+7delinsCG	ENSP00000272286.2:n.1884+6_1884+7delinsCG...
NM_022437.2:c.1884+6_1884+7delinsCG	NP_071882.1:n.1884+6_1884+7delinsCG
XM_005264483.2:c.1881+6_1881+7delinsCG	XP_005264540.1:n.1881+6_1881+7delinsCG
XM_011533029.1:c.1896+6_1896+7delinsCG	XP_011531331.1:n.1896+6_1896+7delinsCG
XM_011533030.1:c.1893+6_1893+7delinsCG	XP_011531332.1:n.1893+6_1893+7delinsCG
XM_011533031.1:c.1668+6_1668+7delinsCG	XP_011531333.1:n.1668+6_1668+7delinsCG
XR_939707.1:n.2386+6_2386+7delinsCG
NM_001357321.1:c.1881+6_1881+7delinsCG	NP_001344250.1:n.1881+6_1881+7delinsCG
XM_011533029.2:c.1896+6_1896+7delinsCG	XP_011531331.1:n.1896+6_1896+7delinsCG
XM_011533030.2:c.1893+6_1893+7delinsCG	XP_011531332.1:n.1893+6_1893+7delinsCG
XR_001738891.1:n.2400+6_2400+7delinsCG
XR_939707.2:n.2400+6_2400+7delinsCG
NM_022437.3:c.1884+6_1884+7delinsCG MANE Select	NP_071882.1:n.1884+6_1884+7delinsCG
NM_001357321.2:c.1881+6_1881+7delinsCG	NP_001344250.1:n.1881+6_1881+7delinsCG