Canonical Allele Identifier: CA2493965151

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877828_43877829delinsTC , CM000664.2:g.43877828_43877829delinsTC	GRCh38
NC_000002.11:g.44104967_44104968delinsTC , CM000664.1:g.44104967_44104968delinsTC	GRCh37
NC_000002.10:g.43958471_43958472delinsTC	NCBI36
NG_008884.1:g.43865_43866delinsTC
NG_008884.2:g.50887_50888delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1937_1938delinsTC MANE Select	ENSP00000272286.2:p.Ile646=
ENST00000272286.2:c.1937_1938delinsTC	ENSP00000272286.2:p.Ile646=
NM_022437.2:c.1937_1938delinsTC	NP_071882.1:p.Ile646=
XM_005264483.2:c.1934_1935delinsTC	XP_005264540.1:p.Ile645=
XM_011533029.1:c.1949_1950delinsTC	XP_011531331.1:p.Ile650=
XM_011533030.1:c.1946_1947delinsTC	XP_011531332.1:p.Ile649=
XM_011533031.1:c.1721_1722delinsTC	XP_011531333.1:p.Ile574=
XR_939707.1:n.2439_2440delinsTC
NM_001357321.1:c.1934_1935delinsTC	NP_001344250.1:p.Ile645=
XM_011533029.2:c.1949_1950delinsTC	XP_011531331.1:p.Ile650=
XM_011533030.2:c.1946_1947delinsTC	XP_011531332.1:p.Ile649=
XR_001738891.1:n.2453_2454delinsTC
XR_939707.2:n.2453_2454delinsTC
NM_022437.3:c.1937_1938delinsTC MANE Select	NP_071882.1:p.Ile646=
NM_001357321.2:c.1934_1935delinsTC	NP_001344250.1:p.Ile645=