Canonical Allele Identifier: CA2806037484
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150912_16150914del , CM000678.2:g.16150912_16150914del GRCh38
NC_000016.9:g.16244769_16244771del , CM000678.1:g.16244769_16244771del GRCh37
NC_000016.8:g.16152270_16152272del NCBI36
NG_007558.2:g.77558_77560del
NG_007558.3:g.77704_77706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-142_*381-140del ENSP00000483331.2:n.*381-142_*381-140del
ENST00000205557.12:c.4209-142_4209-140del MANE Select ENSP00000205557.7:n.4209-142_4209-140del
ENST00000640696.1:c.1023-142_1023-140del ENSP00000492197.1:n.1023-142_1023-140del
ENST00000205557.11:c.4209-142_4209-140del ENSP00000205557.7:n.4209-142_4209-140del
ENST00000456970.6:c.3834-142_3834-140del ENSP00000405002.2:n.3834-142_3834-140del
ENST00000576204.5:n.1072-142_1072-140del
ENST00000622290.4:c.*1418-142_*1418-140del ENSP00000483331.1:n.*1418-142_*1418-140del
NM_001171.5:c.4209-142_4209-140del NP_001162.4:n.4209-142_4209-140del
XM_011522479.1:c.4176-142_4176-140del XP_011520781.1:n.4176-142_4176-140del
XM_011522480.1:c.3867-142_3867-140del XP_011520782.1:n.3867-142_3867-140del
XM_011522481.1:c.3867-142_3867-140del XP_011520783.1:n.3867-142_3867-140del
XR_933134.1:n.538+6622_538+6624del
NM_001351800.1:c.3867-142_3867-140del NP_001338729.1:n.3867-142_3867-140del
NR_147784.1:n.3871-142_3871-140del
XM_011522479.2:c.4176-142_4176-140del XP_011520781.1:n.4176-142_4176-140del
XM_011522481.3:c.3867-142_3867-140del XP_011520783.1:n.3867-142_3867-140del
XM_017023212.1:c.4041-142_4041-140del XP_016878701.1:n.4041-142_4041-140del
XM_024450261.1:c.4245-142_4245-140del XP_024306029.1:n.4245-142_4245-140del
NM_001171.6:c.4209-142_4209-140del MANE Select NP_001162.5:n.4209-142_4209-140del