Canonical Allele Identifier: CA2806037424
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150853_16150855del , CM000678.2:g.16150853_16150855del GRCh38
NC_000016.9:g.16244710_16244712del , CM000678.1:g.16244710_16244712del GRCh37
NC_000016.8:g.16152211_16152213del NCBI36
NG_007558.2:g.77617_77619del
NG_007558.3:g.77763_77765del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-83_*381-81del ENSP00000483331.2:n.*381-83_*381-81del
ENST00000205557.12:c.4209-83_4209-81del MANE Select ENSP00000205557.7:n.4209-83_4209-81del
ENST00000640696.1:c.1023-83_1023-81del ENSP00000492197.1:n.1023-83_1023-81del
ENST00000205557.11:c.4209-83_4209-81del ENSP00000205557.7:n.4209-83_4209-81del
ENST00000456970.6:c.3834-83_3834-81del ENSP00000405002.2:n.3834-83_3834-81del
ENST00000576204.5:n.1072-83_1072-81del
ENST00000622290.4:c.*1418-83_*1418-81del ENSP00000483331.1:n.*1418-83_*1418-81del
NM_001171.5:c.4209-83_4209-81del NP_001162.4:n.4209-83_4209-81del
XM_011522479.1:c.4176-83_4176-81del XP_011520781.1:n.4176-83_4176-81del
XM_011522480.1:c.3867-83_3867-81del XP_011520782.1:n.3867-83_3867-81del
XM_011522481.1:c.3867-83_3867-81del XP_011520783.1:n.3867-83_3867-81del
XR_933134.1:n.538+6563_538+6565del
NM_001351800.1:c.3867-83_3867-81del NP_001338729.1:n.3867-83_3867-81del
NR_147784.1:n.3871-83_3871-81del
XM_011522479.2:c.4176-83_4176-81del XP_011520781.1:n.4176-83_4176-81del
XM_011522481.3:c.3867-83_3867-81del XP_011520783.1:n.3867-83_3867-81del
XM_017023212.1:c.4041-83_4041-81del XP_016878701.1:n.4041-83_4041-81del
XM_024450261.1:c.4245-83_4245-81del XP_024306029.1:n.4245-83_4245-81del
NM_001171.6:c.4209-83_4209-81del MANE Select NP_001162.5:n.4209-83_4209-81del