Canonical Allele Identifier: CA2493965097

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877727_43877728delinsTC , CM000664.2:g.43877727_43877728delinsTC	GRCh38
NC_000002.11:g.44104866_44104867delinsTC , CM000664.1:g.44104866_44104867delinsTC	GRCh37
NC_000002.10:g.43958370_43958371delinsTC	NCBI36
NG_008884.1:g.43764_43765delinsTC
NG_008884.2:g.50786_50787delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1884+39_1884+40delinsTC MANE Select	ENSP00000272286.2:n.1884+39_1884+40delinsTC
ENST00000272286.2:c.1884+39_1884+40delinsTC	ENSP00000272286.2:n.1884+39_1884+40delinsTC
NM_022437.2:c.1884+39_1884+40delinsTC	NP_071882.1:n.1884+39_1884+40delinsTC
XM_005264483.2:c.1881+39_1881+40delinsTC	XP_005264540.1:n.1881+39_1881+40delinsTC
XM_011533029.1:c.1896+39_1896+40delinsTC	XP_011531331.1:n.1896+39_1896+40delinsTC
XM_011533030.1:c.1893+39_1893+40delinsTC	XP_011531332.1:n.1893+39_1893+40delinsTC
XM_011533031.1:c.1668+39_1668+40delinsTC	XP_011531333.1:n.1668+39_1668+40delinsTC
XR_939707.1:n.2386+39_2386+40delinsTC
NM_001357321.1:c.1881+39_1881+40delinsTC	NP_001344250.1:n.1881+39_1881+40delinsTC
XM_011533029.2:c.1896+39_1896+40delinsTC	XP_011531331.1:n.1896+39_1896+40delinsTC
XM_011533030.2:c.1893+39_1893+40delinsTC	XP_011531332.1:n.1893+39_1893+40delinsTC
XR_001738891.1:n.2400+39_2400+40delinsTC
XR_939707.2:n.2400+39_2400+40delinsTC
NM_022437.3:c.1884+39_1884+40delinsTC MANE Select	NP_071882.1:n.1884+39_1884+40delinsTC
NM_001357321.2:c.1881+39_1881+40delinsTC	NP_001344250.1:n.1881+39_1881+40delinsTC