Canonical Allele Identifier: CA2749705968

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGA , CM000664.2:g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGA	GRCh38
NC_000002.11:g.44104981_44104982insCTGTCCCCAGGAAGGGGCTCCTGA , CM000664.1:g.44104981_44104982insCTGTCCCCAGGAAGGGGCTCCTGA	GRCh37
NC_000002.10:g.43958485_43958486insCTGTCCCCAGGAAGGGGCTCCTGA	NCBI36
NG_008884.1:g.43879_43880insCTGTCCCCAGGAAGGGGCTCCTGA
NG_008884.2:g.50901_50902insCTGTCCCCAGGAAGGGGCTCCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGA MANE Select	ENSP00000272286.2:p.Leu650_Ser651insThrValProArgLysGlyLeuLeu
ENST00000272286.2:c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGA	ENSP00000272286.2:p.Leu650_Ser651insThrValProArgLysGlyLeuLeu
NM_022437.2:c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGA	NP_071882.1:p.Leu650_Ser651insThrValProArgLysGlyLeuLeu
XM_005264483.2:c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGA	XP_005264540.1:p.Leu649_Ser650insThrValProArgLysGlyLeuLeu
XM_011533029.1:c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGA	XP_011531331.1:p.Leu654_Ser655insThrValProArgLysGlyLeuLeu
XM_011533030.1:c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGA	XP_011531332.1:p.Leu653_Ser654insThrValProArgLysGlyLeuLeu
XM_011533031.1:c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGA	XP_011531333.1:p.Leu578_Ser579insThrValProArgLysGlyLeuLeu
XR_939707.1:n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGA
NM_001357321.1:c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGA	NP_001344250.1:p.Leu649_Ser650insThrValProArgLysGlyLeuLeu
XM_011533029.2:c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGA	XP_011531331.1:p.Leu654_Ser655insThrValProArgLysGlyLeuLeu
XM_011533030.2:c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGA	XP_011531332.1:p.Leu653_Ser654insThrValProArgLysGlyLeuLeu
XR_001738891.1:n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGA
XR_939707.2:n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGA
NM_022437.3:c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGA MANE Select	NP_071882.1:p.Leu650_Ser651insThrValProArgLysGlyLeuLeu
NM_001357321.2:c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGA	NP_001344250.1:p.Leu649_Ser650insThrValProArgLysGlyLeuLeu