Canonical Allele Identifier: CA2557495743

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210096_219210097insTGGGGTGTATGCTGACAT , CM000664.2:g.219210096_219210097insTGGGGTGTATGCTGACAT	GRCh38
NC_000002.11:g.220074818_220074819insTGGGGTGTATGCTGACAT , CM000664.1:g.220074818_220074819insTGGGGTGTATGCTGACAT	GRCh37
NC_000002.10:g.219783062_219783063insTGGGGTGTATGCTGACAT	NCBI36
NG_032110.1:g.13894_13895insATGTCAGCATACACCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2421-51_2421-50insATGTCAGCATACACCCCA (ABCB6) MANE Select	ENSP00000265316.3:n.2421-51_2421-50insATGTCAGCATACACCCCA
ENST00000295750.5:c.2283-51_2283-50insATGTCAGCATACACCCCA (ABCB6)	ENSP00000295750.5:n.2283-51_2283-50insATGTCAGCATACACCCCA
ENST00000265316.7:c.2421-51_2421-50insATGTCAGCATACACCCCA (ABCB6)	ENSP00000265316.3:n.2421-51_2421-50insATGTCAGCATACACCCCA
ENST00000295750.4:c.1964-51_1964-50insATGTCAGCATACACCCCA (ABCB6)
ENST00000443805.1:c.409-51_409-50insATGTCAGCATACACCCCA (ABCB6)
ENST00000446716.5:c.4971-51_4971-50insATGTCAGCATACACCCCA (ATG9A)
ENST00000485773.5:n.688-51_688-50insATGTCAGCATACACCCCA (ABCB6)
ENST00000487380.5:n.494-51_494-50insATGTCAGCATACACCCCA (ABCB6)
ENST00000497882.5:n.2734-51_2734-50insATGTCAGCATACACCCCA (ABCB6)
NM_005689.2:c.2421-51_2421-50insATGTCAGCATACACCCCA (ABCB6)	NP_005680.1:n.2421-51_2421-50insATGTCAGCATACACCCCA
NM_001349828.1:c.2283-51_2283-50insATGTCAGCATACACCCCA (ABCB6)	NP_001336757.1:n.2283-51_2283-50insATGTCAGCATACACCCCA
NM_005689.3:c.2421-51_2421-50insATGTCAGCATACACCCCA (ABCB6)	NP_005680.1:n.2421-51_2421-50insATGTCAGCATACACCCCA
NM_005689.4:c.2421-51_2421-50insATGTCAGCATACACCCCA (ABCB6) MANE Select	NP_005680.1:n.2421-51_2421-50insATGTCAGCATACACCCCA
NM_001349828.2:c.2283-51_2283-50insATGTCAGCATACACCCCA (ABCB6)	NP_001336757.1:n.2283-51_2283-50insATGTCAGCATACACCCCA