Canonical Allele Identifier: CA2493941424

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839345_43839348delinsAATG , CM000664.2:g.43839345_43839348delinsAATG	GRCh38
NC_000002.11:g.44066484_44066487delinsAATG , CM000664.1:g.44066484_44066487delinsAATG	GRCh37
NC_000002.10:g.43919988_43919991delinsAATG	NCBI36
NG_008883.1:g.4472_4475delinsCATT
NG_008884.1:g.5382_5385delinsAATG
NG_008884.2:g.12404_12407delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+229_63+232delinsAATG MANE Select	ENSP00000272286.2:n.63+229_63+232delinsAATG
ENST00000643284.1:n.521-5162_521-5159delinsAATG
ENST00000644611.1:c.76-5162_76-5159delinsAATG	ENSP00000495423.1:n.76-5162_76-5159delinsAATG
ENST00000272286.2:c.63+229_63+232delinsAATG	ENSP00000272286.2:n.63+229_63+232delinsAATG
NM_022437.2:c.63+229_63+232delinsAATG	NP_071882.1:n.63+229_63+232delinsAATG
XM_005264483.2:c.63+229_63+232delinsAATG	XP_005264540.1:n.63+229_63+232delinsAATG
XM_011533029.1:c.76-5162_76-5159delinsAATG	XP_011531331.1:n.76-5162_76-5159delinsAATG
XM_011533030.1:c.76-5162_76-5159delinsAATG	XP_011531332.1:n.76-5162_76-5159delinsAATG
XM_011533031.1:c.-153-5162_-153-5159delinsAATG	XP_011531333.1:n.-153-5162_-153-5159delinsAATG
XR_939707.1:n.566-5162_566-5159delinsAATG
NM_001357321.1:c.63+229_63+232delinsAATG	NP_001344250.1:n.63+229_63+232delinsAATG
XM_011533029.2:c.76-5162_76-5159delinsAATG	XP_011531331.1:n.76-5162_76-5159delinsAATG
XM_011533030.2:c.76-5162_76-5159delinsAATG	XP_011531332.1:n.76-5162_76-5159delinsAATG
XR_001738891.1:n.580-5162_580-5159delinsAATG
XR_939707.2:n.580-5162_580-5159delinsAATG
NM_022437.3:c.63+229_63+232delinsAATG MANE Select	NP_071882.1:n.63+229_63+232delinsAATG
NM_001357321.2:c.63+229_63+232delinsAATG	NP_001344250.1:n.63+229_63+232delinsAATG