Canonical Allele Identifier: CA2806037470
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150893_16150895del , CM000678.2:g.16150893_16150895del GRCh38
NC_000016.9:g.16244750_16244752del , CM000678.1:g.16244750_16244752del GRCh37
NC_000016.8:g.16152251_16152253del NCBI36
NG_007558.2:g.77578_77580del
NG_007558.3:g.77724_77726del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-122_*381-120del ENSP00000483331.2:n.*381-122_*381-120del
ENST00000205557.12:c.4209-122_4209-120del MANE Select ENSP00000205557.7:n.4209-122_4209-120del
ENST00000640696.1:c.1023-122_1023-120del ENSP00000492197.1:n.1023-122_1023-120del
ENST00000205557.11:c.4209-122_4209-120del ENSP00000205557.7:n.4209-122_4209-120del
ENST00000456970.6:c.3834-122_3834-120del ENSP00000405002.2:n.3834-122_3834-120del
ENST00000576204.5:n.1072-122_1072-120del
ENST00000622290.4:c.*1418-122_*1418-120del ENSP00000483331.1:n.*1418-122_*1418-120del
NM_001171.5:c.4209-122_4209-120del NP_001162.4:n.4209-122_4209-120del
XM_011522479.1:c.4176-122_4176-120del XP_011520781.1:n.4176-122_4176-120del
XM_011522480.1:c.3867-122_3867-120del XP_011520782.1:n.3867-122_3867-120del
XM_011522481.1:c.3867-122_3867-120del XP_011520783.1:n.3867-122_3867-120del
XR_933134.1:n.538+6603_538+6605del
NM_001351800.1:c.3867-122_3867-120del NP_001338729.1:n.3867-122_3867-120del
NR_147784.1:n.3871-122_3871-120del
XM_011522479.2:c.4176-122_4176-120del XP_011520781.1:n.4176-122_4176-120del
XM_011522481.3:c.3867-122_3867-120del XP_011520783.1:n.3867-122_3867-120del
XM_017023212.1:c.4041-122_4041-120del XP_016878701.1:n.4041-122_4041-120del
XM_024450261.1:c.4245-122_4245-120del XP_024306029.1:n.4245-122_4245-120del
NM_001171.6:c.4209-122_4209-120del MANE Select NP_001162.5:n.4209-122_4209-120del