Canonical Allele Identifier: CA2806037493
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150920_16150924del , CM000678.2:g.16150920_16150924del GRCh38
NC_000016.9:g.16244777_16244781del , CM000678.1:g.16244777_16244781del GRCh37
NC_000016.8:g.16152278_16152282del NCBI36
NG_007558.2:g.77548_77552del
NG_007558.3:g.77694_77698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-152_*381-148del ENSP00000483331.2:n.*381-152_*381-148del
ENST00000205557.12:c.4209-152_4209-148del MANE Select ENSP00000205557.7:n.4209-152_4209-148del
ENST00000640696.1:c.1023-152_1023-148del ENSP00000492197.1:n.1023-152_1023-148del
ENST00000205557.11:c.4209-152_4209-148del ENSP00000205557.7:n.4209-152_4209-148del
ENST00000456970.6:c.3834-152_3834-148del ENSP00000405002.2:n.3834-152_3834-148del
ENST00000576204.5:n.1072-152_1072-148del
ENST00000622290.4:c.*1418-152_*1418-148del ENSP00000483331.1:n.*1418-152_*1418-148del
NM_001171.5:c.4209-152_4209-148del NP_001162.4:n.4209-152_4209-148del
XM_011522479.1:c.4176-152_4176-148del XP_011520781.1:n.4176-152_4176-148del
XM_011522480.1:c.3867-152_3867-148del XP_011520782.1:n.3867-152_3867-148del
XM_011522481.1:c.3867-152_3867-148del XP_011520783.1:n.3867-152_3867-148del
XR_933134.1:n.538+6630_538+6634del
NM_001351800.1:c.3867-152_3867-148del NP_001338729.1:n.3867-152_3867-148del
NR_147784.1:n.3871-152_3871-148del
XM_011522479.2:c.4176-152_4176-148del XP_011520781.1:n.4176-152_4176-148del
XM_011522481.3:c.3867-152_3867-148del XP_011520783.1:n.3867-152_3867-148del
XM_017023212.1:c.4041-152_4041-148del XP_016878701.1:n.4041-152_4041-148del
XM_024450261.1:c.4245-152_4245-148del XP_024306029.1:n.4245-152_4245-148del
NM_001171.6:c.4209-152_4209-148del MANE Select NP_001162.5:n.4209-152_4209-148del