Canonical Allele Identifier: CA1329111509

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210047_219210049delinsCTG , CM000664.2:g.219210047_219210049delinsCTG	GRCh38
NC_000002.11:g.220074769_220074771delinsCTG , CM000664.1:g.220074769_220074771delinsCTG	GRCh37
NC_000002.10:g.219783013_219783015delinsCTG	NCBI36
NG_032110.1:g.13942_13944delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2421-3_2421-1delinsCAG (ABCB6) MANE Select	ENSP00000265316.3:n.2421-3_2421-1delinsCA...
ENST00000295750.5:c.2283-3_2283-1delinsCAG (ABCB6)	ENSP00000295750.5:n.2283-3_2283-1delinsCA...
ENST00000265316.7:c.2421-3_2421-1delinsCAG (ABCB6)	ENSP00000265316.3:n.2421-3_2421-1delinsCA...
ENST00000295750.4:c.1964-3_1964-1delinsCAG (ABCB6)
ENST00000443805.1:c.409-3_409-1delinsCAG (ABCB6)
ENST00000446716.5:c.4971-3_4971-1delinsCAG (ATG9A)
ENST00000485773.5:n.688-3_688-1delinsCAG (ABCB6)
ENST00000487380.5:n.494-3_494-1delinsCAG (ABCB6)
ENST00000497882.5:n.2734-3_2734-1delinsCAG (ABCB6)
NM_005689.2:c.2421-3_2421-1delinsCAG (ABCB6)	NP_005680.1:n.2421-3_2421-1delinsCAG
NM_001349828.1:c.2283-3_2283-1delinsCAG (ABCB6)	NP_001336757.1:n.2283-3_2283-1delinsCAG
NM_005689.3:c.2421-3_2421-1delinsCAG (ABCB6)	NP_005680.1:n.2421-3_2421-1delinsCAG
NM_005689.4:c.2421-3_2421-1delinsCAG (ABCB6) MANE Select	NP_005680.1:n.2421-3_2421-1delinsCAG
NM_001349828.2:c.2283-3_2283-1delinsCAG (ABCB6)	NP_001336757.1:n.2283-3_2283-1delinsCAG