Canonical Allele Identifier: CA2806037756
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16162893_16162981del , CM000678.2:g.16162893_16162981del GRCh38
NC_000016.9:g.16256750_16256838del , CM000678.1:g.16256750_16256838del GRCh37
NC_000016.8:g.16164251_16164339del NCBI36
NG_007558.2:g.65496_65584del
NG_007558.3:g.65642_65730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3506+17_3506+105del ENSP00000483331.2:n.3506+17_3506+105del
ENST00000205557.12:c.3506+17_3506+105del MANE Select ENSP00000205557.7:n.3506+17_3506+105del
ENST00000640696.1:c.321-1412_321-1324del ENSP00000492197.1:n.321-1412_321-1324del
ENST00000205557.11:c.3506+17_3506+105del ENSP00000205557.7:n.3506+17_3506+105del
ENST00000456970.6:c.3132-1412_3132-1324del ENSP00000405002.2:n.3132-1412_3132-1324del
ENST00000622290.4:c.*715+17_*715+105del ENSP00000483331.1:n.*715+17_*715+105del
NM_001171.5:c.3506+17_3506+105del NP_001162.4:n.3506+17_3506+105del
XM_011522479.1:c.3473+17_3473+105del XP_011520781.1:n.3473+17_3473+105del
XM_011522480.1:c.3164+17_3164+105del XP_011520782.1:n.3164+17_3164+105del
XM_011522481.1:c.3164+17_3164+105del XP_011520783.1:n.3164+17_3164+105del
XR_932836.1:n.3741+17_3741+105del
XR_932837.1:n.3543-1412_3543-1324del
XR_932838.1:n.3543-1412_3543-1324del
XR_933133.1:n.407+50_407+138del
XR_933134.1:n.754+50_754+138del
NM_001351800.1:c.3164+17_3164+105del NP_001338729.1:n.3164+17_3164+105del
NR_147784.1:n.3169-1412_3169-1324del
XM_011522479.2:c.3473+17_3473+105del XP_011520781.1:n.3473+17_3473+105del
XM_011522481.3:c.3164+17_3164+105del XP_011520783.1:n.3164+17_3164+105del
XM_017023212.1:c.3338+17_3338+105del XP_016878701.1:n.3338+17_3338+105del
XM_017023214.1:c.3307-1412_3307-1324del XP_016878703.1:n.3307-1412_3307-1324del
XM_024450261.1:c.3542+17_3542+105del XP_024306029.1:n.3542+17_3542+105del
XR_932836.2:n.3687+17_3687+105del
XR_932837.3:n.3488-1412_3488-1324del
XR_932838.3:n.3488-1412_3488-1324del
NM_001171.6:c.3506+17_3506+105del MANE Select NP_001162.5:n.3506+17_3506+105del