Canonical Allele Identifier: CA1329111865

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210716_219210719delinsCCAG , CM000664.2:g.219210716_219210719delinsCCAG	GRCh38
NC_000002.11:g.220075438_220075441delinsCCAG , CM000664.1:g.220075438_220075441delinsCCAG	GRCh37
NC_000002.10:g.219783682_219783685delinsCCAG	NCBI36
NG_032110.1:g.13272_13275delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2248_2251delinsCTGG (ABCB6) MANE Select	ENSP00000265316.3:p.Leu750=
ENST00000295750.5:c.2110_2113delinsCTGG (ABCB6)	ENSP00000295750.5:p.Leu704=
ENST00000265316.7:c.2248_2251delinsCTGG (ABCB6)	ENSP00000265316.3:p.Leu750=
ENST00000295750.4:c.1791_1794delinsCTGG (ABCB6)
ENST00000443805.1:c.236_239delinsCTGG (ABCB6)
ENST00000446716.5:c.4798_4801delinsCTGG (ATG9A)
ENST00000485773.5:n.280_283delinsCTGG (ABCB6)
ENST00000487380.5:n.321_324delinsCTGG (ABCB6)
ENST00000492543.1:n.798_801delinsCTGG (ABCB6)
ENST00000497882.5:n.2561_2564delinsCTGG (ABCB6)
NM_005689.2:c.2248_2251delinsCTGG (ABCB6)	NP_005680.1:p.Leu750=
NM_001349828.1:c.2110_2113delinsCTGG (ABCB6)	NP_001336757.1:p.Leu704=
NM_005689.3:c.2248_2251delinsCTGG (ABCB6)	NP_005680.1:p.Leu750=
NM_005689.4:c.2248_2251delinsCTGG (ABCB6) MANE Select	NP_005680.1:p.Leu750=
NM_001349828.2:c.2110_2113delinsCTGG (ABCB6)	NP_001336757.1:p.Leu704=