Canonical Allele Identifier: CA129260

Linked Data

ClinVar Variation Id: 30480
ClinVar RCV Id: RCV000023437
dbSNP Id: rs387906909

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219211096_219211097del , CM000664.2:g.219211096_219211097del GRCh38
NC_000002.11:g.220075818_220075819del , CM000664.1:g.220075818_220075819del GRCh37
NC_000002.10:g.219784062_219784063del NCBI36
NG_032110.1:g.12899_12900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265316.9:c.1985_1986del (ABCB6) MANE Select ENSP00000265316.3:p.Leu662ProfsTer15
ENST00000295750.5:c.1847_1848del (ABCB6) ENSP00000295750.5:p.Leu616ProfsTer15
ENST00000265316.7:c.1985_1986del (ABCB6) ENSP00000265316.3:p.Leu662ProfsTer15
ENST00000295750.4:c.1528_1529del (ABCB6)
ENST00000446716.5:c.4694-269_4694-268del (ATG9A)
ENST00000485773.5:n.17_18del (ABCB6)
ENST00000492543.1:n.535_536del (ABCB6)
ENST00000497882.5:n.2298_2299del (ABCB6)
NM_005689.2:c.1985_1986del (ABCB6) NP_005680.1:p.Leu662ProfsTer15
NM_001349828.1:c.1847_1848del (ABCB6) NP_001336757.1:p.Leu616ProfsTer15
NM_005689.3:c.1985_1986del (ABCB6) NP_005680.1:p.Leu662ProfsTer15
NM_005689.4:c.1985_1986del (ABCB6) MANE Select NP_005680.1:p.Leu662ProfsTer15
NM_001349828.2:c.1847_1848del (ABCB6) NP_001336757.1:p.Leu616ProfsTer15