Canonical Allele Identifier: CA2806037805
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163241_16163247del , CM000678.2:g.16163241_16163247del GRCh38
NC_000016.9:g.16257098_16257104del , CM000678.1:g.16257098_16257104del GRCh37
NC_000016.8:g.16164599_16164605del NCBI36
NG_007558.2:g.65225_65231del
NG_007558.3:g.65371_65377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3307-55_3307-49del ENSP00000483331.2:n.3307-55_3307-49del
ENST00000205557.12:c.3307-55_3307-49del MANE Select ENSP00000205557.7:n.3307-55_3307-49del
ENST00000640696.1:c.321-1683_321-1677del ENSP00000492197.1:n.321-1683_321-1677del
ENST00000205557.11:c.3307-55_3307-49del ENSP00000205557.7:n.3307-55_3307-49del
ENST00000456970.6:c.3132-1683_3132-1677del ENSP00000405002.2:n.3132-1683_3132-1677del
ENST00000622290.4:c.*516-55_*516-49del ENSP00000483331.1:n.*516-55_*516-49del
NM_001171.5:c.3307-55_3307-49del NP_001162.4:n.3307-55_3307-49del
XM_011522479.1:c.3274-55_3274-49del XP_011520781.1:n.3274-55_3274-49del
XM_011522480.1:c.2965-55_2965-49del XP_011520782.1:n.2965-55_2965-49del
XM_011522481.1:c.2965-55_2965-49del XP_011520783.1:n.2965-55_2965-49del
XR_932836.1:n.3542-55_3542-49del
XR_932837.1:n.3543-1683_3543-1677del
XR_932838.1:n.3543-1683_3543-1677del
XR_933133.1:n.407+398_407+404del
XR_933134.1:n.754+398_754+404del
NM_001351800.1:c.2965-55_2965-49del NP_001338729.1:n.2965-55_2965-49del
NR_147784.1:n.3169-1683_3169-1677del
XM_011522479.2:c.3274-55_3274-49del XP_011520781.1:n.3274-55_3274-49del
XM_011522481.3:c.2965-55_2965-49del XP_011520783.1:n.2965-55_2965-49del
XM_017023212.1:c.3139-55_3139-49del XP_016878701.1:n.3139-55_3139-49del
XM_017023214.1:c.3307-1683_3307-1677del XP_016878703.1:n.3307-1683_3307-1677del
XM_024450261.1:c.3343-55_3343-49del XP_024306029.1:n.3343-55_3343-49del
XR_932836.2:n.3488-55_3488-49del
XR_932837.3:n.3488-1683_3488-1677del
XR_932838.3:n.3488-1683_3488-1677del
NM_001171.6:c.3307-55_3307-49del MANE Select NP_001162.5:n.3307-55_3307-49del