Canonical Allele Identifier: CA2806037488
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150917_16150918del , CM000678.2:g.16150917_16150918del GRCh38
NC_000016.9:g.16244774_16244775del , CM000678.1:g.16244774_16244775del GRCh37
NC_000016.8:g.16152275_16152276del NCBI36
NG_007558.2:g.77556_77557del
NG_007558.3:g.77702_77703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-144_*381-143del ENSP00000483331.2:n.*381-144_*381-143del
ENST00000205557.12:c.4209-144_4209-143del MANE Select ENSP00000205557.7:n.4209-144_4209-143del
ENST00000640696.1:c.1023-144_1023-143del ENSP00000492197.1:n.1023-144_1023-143del
ENST00000205557.11:c.4209-144_4209-143del ENSP00000205557.7:n.4209-144_4209-143del
ENST00000456970.6:c.3834-144_3834-143del ENSP00000405002.2:n.3834-144_3834-143del
ENST00000576204.5:n.1072-144_1072-143del
ENST00000622290.4:c.*1418-144_*1418-143del ENSP00000483331.1:n.*1418-144_*1418-143del
NM_001171.5:c.4209-144_4209-143del NP_001162.4:n.4209-144_4209-143del
XM_011522479.1:c.4176-144_4176-143del XP_011520781.1:n.4176-144_4176-143del
XM_011522480.1:c.3867-144_3867-143del XP_011520782.1:n.3867-144_3867-143del
XM_011522481.1:c.3867-144_3867-143del XP_011520783.1:n.3867-144_3867-143del
XR_933134.1:n.538+6627_538+6628del
NM_001351800.1:c.3867-144_3867-143del NP_001338729.1:n.3867-144_3867-143del
NR_147784.1:n.3871-144_3871-143del
XM_011522479.2:c.4176-144_4176-143del XP_011520781.1:n.4176-144_4176-143del
XM_011522481.3:c.3867-144_3867-143del XP_011520783.1:n.3867-144_3867-143del
XM_017023212.1:c.4041-144_4041-143del XP_016878701.1:n.4041-144_4041-143del
XM_024450261.1:c.4245-144_4245-143del XP_024306029.1:n.4245-144_4245-143del
NM_001171.6:c.4209-144_4209-143del MANE Select NP_001162.5:n.4209-144_4209-143del