Canonical Allele Identifier: CA2806037410
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150820_16150826del , CM000678.2:g.16150820_16150826del GRCh38
NC_000016.9:g.16244677_16244683del , CM000678.1:g.16244677_16244683del GRCh37
NC_000016.8:g.16152178_16152184del NCBI36
NG_007558.2:g.77646_77652del
NG_007558.3:g.77792_77798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-54_*381-48del ENSP00000483331.2:n.*381-54_*381-48del
ENST00000205557.12:c.4209-54_4209-48del MANE Select ENSP00000205557.7:n.4209-54_4209-48del
ENST00000640696.1:c.1023-54_1023-48del ENSP00000492197.1:n.1023-54_1023-48del
ENST00000205557.11:c.4209-54_4209-48del ENSP00000205557.7:n.4209-54_4209-48del
ENST00000456970.6:c.3834-54_3834-48del ENSP00000405002.2:n.3834-54_3834-48del
ENST00000576204.5:n.1072-54_1072-48del
ENST00000622290.4:c.*1418-54_*1418-48del ENSP00000483331.1:n.*1418-54_*1418-48del
NM_001171.5:c.4209-54_4209-48del NP_001162.4:n.4209-54_4209-48del
XM_011522479.1:c.4176-54_4176-48del XP_011520781.1:n.4176-54_4176-48del
XM_011522480.1:c.3867-54_3867-48del XP_011520782.1:n.3867-54_3867-48del
XM_011522481.1:c.3867-54_3867-48del XP_011520783.1:n.3867-54_3867-48del
XR_933134.1:n.538+6530_538+6536del
NM_001351800.1:c.3867-54_3867-48del NP_001338729.1:n.3867-54_3867-48del
NR_147784.1:n.3871-54_3871-48del
XM_011522479.2:c.4176-54_4176-48del XP_011520781.1:n.4176-54_4176-48del
XM_011522481.3:c.3867-54_3867-48del XP_011520783.1:n.3867-54_3867-48del
XM_017023212.1:c.4041-54_4041-48del XP_016878701.1:n.4041-54_4041-48del
XM_024450261.1:c.4245-54_4245-48del XP_024306029.1:n.4245-54_4245-48del
NM_001171.6:c.4209-54_4209-48del MANE Select NP_001162.5:n.4209-54_4209-48del