Canonical Allele Identifier: CA2806037820
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163268_16163274del , CM000678.2:g.16163268_16163274del GRCh38
NC_000016.9:g.16257125_16257131del , CM000678.1:g.16257125_16257131del GRCh37
NC_000016.8:g.16164626_16164632del NCBI36
NG_007558.2:g.65198_65204del
NG_007558.3:g.65344_65350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3307-82_3307-76del ENSP00000483331.2:n.3307-82_3307-76del
ENST00000205557.12:c.3307-82_3307-76del MANE Select ENSP00000205557.7:n.3307-82_3307-76del
ENST00000640696.1:c.321-1710_321-1704del ENSP00000492197.1:n.321-1710_321-1704del
ENST00000205557.11:c.3307-82_3307-76del ENSP00000205557.7:n.3307-82_3307-76del
ENST00000456970.6:c.3132-1710_3132-1704del ENSP00000405002.2:n.3132-1710_3132-1704del
ENST00000622290.4:c.*516-82_*516-76del ENSP00000483331.1:n.*516-82_*516-76del
NM_001171.5:c.3307-82_3307-76del NP_001162.4:n.3307-82_3307-76del
XM_011522479.1:c.3274-82_3274-76del XP_011520781.1:n.3274-82_3274-76del
XM_011522480.1:c.2965-82_2965-76del XP_011520782.1:n.2965-82_2965-76del
XM_011522481.1:c.2965-82_2965-76del XP_011520783.1:n.2965-82_2965-76del
XR_932836.1:n.3542-82_3542-76del
XR_932837.1:n.3543-1710_3543-1704del
XR_932838.1:n.3543-1710_3543-1704del
XR_933133.1:n.407+425_407+431del
XR_933134.1:n.754+425_754+431del
NM_001351800.1:c.2965-82_2965-76del NP_001338729.1:n.2965-82_2965-76del
NR_147784.1:n.3169-1710_3169-1704del
XM_011522479.2:c.3274-82_3274-76del XP_011520781.1:n.3274-82_3274-76del
XM_011522481.3:c.2965-82_2965-76del XP_011520783.1:n.2965-82_2965-76del
XM_017023212.1:c.3139-82_3139-76del XP_016878701.1:n.3139-82_3139-76del
XM_017023214.1:c.3307-1710_3307-1704del XP_016878703.1:n.3307-1710_3307-1704del
XM_024450261.1:c.3343-82_3343-76del XP_024306029.1:n.3343-82_3343-76del
XR_932836.2:n.3488-82_3488-76del
XR_932837.3:n.3488-1710_3488-1704del
XR_932838.3:n.3488-1710_3488-1704del
NM_001171.6:c.3307-82_3307-76del MANE Select NP_001162.5:n.3307-82_3307-76del