Canonical Allele Identifier: CA2806037419
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150851_16150864del , CM000678.2:g.16150851_16150864del GRCh38
NC_000016.9:g.16244708_16244721del , CM000678.1:g.16244708_16244721del GRCh37
NC_000016.8:g.16152209_16152222del NCBI36
NG_007558.2:g.77608_77621del
NG_007558.3:g.77754_77767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-92_*381-79del ENSP00000483331.2:n.*381-92_*381-79del
ENST00000205557.12:c.4209-92_4209-79del MANE Select ENSP00000205557.7:n.4209-92_4209-79del
ENST00000640696.1:c.1023-92_1023-79del ENSP00000492197.1:n.1023-92_1023-79del
ENST00000205557.11:c.4209-92_4209-79del ENSP00000205557.7:n.4209-92_4209-79del
ENST00000456970.6:c.3834-92_3834-79del ENSP00000405002.2:n.3834-92_3834-79del
ENST00000576204.5:n.1072-92_1072-79del
ENST00000622290.4:c.*1418-92_*1418-79del ENSP00000483331.1:n.*1418-92_*1418-79del
NM_001171.5:c.4209-92_4209-79del NP_001162.4:n.4209-92_4209-79del
XM_011522479.1:c.4176-92_4176-79del XP_011520781.1:n.4176-92_4176-79del
XM_011522480.1:c.3867-92_3867-79del XP_011520782.1:n.3867-92_3867-79del
XM_011522481.1:c.3867-92_3867-79del XP_011520783.1:n.3867-92_3867-79del
XR_933134.1:n.538+6561_538+6574del
NM_001351800.1:c.3867-92_3867-79del NP_001338729.1:n.3867-92_3867-79del
NR_147784.1:n.3871-92_3871-79del
XM_011522479.2:c.4176-92_4176-79del XP_011520781.1:n.4176-92_4176-79del
XM_011522481.3:c.3867-92_3867-79del XP_011520783.1:n.3867-92_3867-79del
XM_017023212.1:c.4041-92_4041-79del XP_016878701.1:n.4041-92_4041-79del
XM_024450261.1:c.4245-92_4245-79del XP_024306029.1:n.4245-92_4245-79del
NM_001171.6:c.4209-92_4209-79del MANE Select NP_001162.5:n.4209-92_4209-79del