Canonical Allele Identifier: CA2806037458
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150887_16150895del , CM000678.2:g.16150887_16150895del GRCh38
NC_000016.9:g.16244744_16244752del , CM000678.1:g.16244744_16244752del GRCh37
NC_000016.8:g.16152245_16152253del NCBI36
NG_007558.2:g.77577_77585del
NG_007558.3:g.77723_77731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-123_*381-115del ENSP00000483331.2:n.*381-123_*381-115del
ENST00000205557.12:c.4209-123_4209-115del MANE Select ENSP00000205557.7:n.4209-123_4209-115del
ENST00000640696.1:c.1023-123_1023-115del ENSP00000492197.1:n.1023-123_1023-115del
ENST00000205557.11:c.4209-123_4209-115del ENSP00000205557.7:n.4209-123_4209-115del
ENST00000456970.6:c.3834-123_3834-115del ENSP00000405002.2:n.3834-123_3834-115del
ENST00000576204.5:n.1072-123_1072-115del
ENST00000622290.4:c.*1418-123_*1418-115del ENSP00000483331.1:n.*1418-123_*1418-115del
NM_001171.5:c.4209-123_4209-115del NP_001162.4:n.4209-123_4209-115del
XM_011522479.1:c.4176-123_4176-115del XP_011520781.1:n.4176-123_4176-115del
XM_011522480.1:c.3867-123_3867-115del XP_011520782.1:n.3867-123_3867-115del
XM_011522481.1:c.3867-123_3867-115del XP_011520783.1:n.3867-123_3867-115del
XR_933134.1:n.538+6597_538+6605del
NM_001351800.1:c.3867-123_3867-115del NP_001338729.1:n.3867-123_3867-115del
NR_147784.1:n.3871-123_3871-115del
XM_011522479.2:c.4176-123_4176-115del XP_011520781.1:n.4176-123_4176-115del
XM_011522481.3:c.3867-123_3867-115del XP_011520783.1:n.3867-123_3867-115del
XM_017023212.1:c.4041-123_4041-115del XP_016878701.1:n.4041-123_4041-115del
XM_024450261.1:c.4245-123_4245-115del XP_024306029.1:n.4245-123_4245-115del
NM_001171.6:c.4209-123_4209-115del MANE Select NP_001162.5:n.4209-123_4209-115del