Canonical Allele Identifier: CA2806037440
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150878_16150883del , CM000678.2:g.16150878_16150883del GRCh38
NC_000016.9:g.16244735_16244740del , CM000678.1:g.16244735_16244740del GRCh37
NC_000016.8:g.16152236_16152241del NCBI36
NG_007558.2:g.77589_77594del
NG_007558.3:g.77735_77740del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-111_*381-106del ENSP00000483331.2:n.*381-111_*381-106del
ENST00000205557.12:c.4209-111_4209-106del MANE Select ENSP00000205557.7:n.4209-111_4209-106del
ENST00000640696.1:c.1023-111_1023-106del ENSP00000492197.1:n.1023-111_1023-106del
ENST00000205557.11:c.4209-111_4209-106del ENSP00000205557.7:n.4209-111_4209-106del
ENST00000456970.6:c.3834-111_3834-106del ENSP00000405002.2:n.3834-111_3834-106del
ENST00000576204.5:n.1072-111_1072-106del
ENST00000622290.4:c.*1418-111_*1418-106del ENSP00000483331.1:n.*1418-111_*1418-106del
NM_001171.5:c.4209-111_4209-106del NP_001162.4:n.4209-111_4209-106del
XM_011522479.1:c.4176-111_4176-106del XP_011520781.1:n.4176-111_4176-106del
XM_011522480.1:c.3867-111_3867-106del XP_011520782.1:n.3867-111_3867-106del
XM_011522481.1:c.3867-111_3867-106del XP_011520783.1:n.3867-111_3867-106del
XR_933134.1:n.538+6588_538+6593del
NM_001351800.1:c.3867-111_3867-106del NP_001338729.1:n.3867-111_3867-106del
NR_147784.1:n.3871-111_3871-106del
XM_011522479.2:c.4176-111_4176-106del XP_011520781.1:n.4176-111_4176-106del
XM_011522481.3:c.3867-111_3867-106del XP_011520783.1:n.3867-111_3867-106del
XM_017023212.1:c.4041-111_4041-106del XP_016878701.1:n.4041-111_4041-106del
XM_024450261.1:c.4245-111_4245-106del XP_024306029.1:n.4245-111_4245-106del
NM_001171.6:c.4209-111_4209-106del MANE Select NP_001162.5:n.4209-111_4209-106del