Canonical Allele Identifier: CA718555219
Gene: ABCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1461104157

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163260_16163261del , CM000678.2:g.16163260_16163261del GRCh38
NC_000016.9:g.16257117_16257118del , CM000678.1:g.16257117_16257118del GRCh37
NC_000016.8:g.16164618_16164619del NCBI36
NG_007558.2:g.65213_65214del
NG_007558.3:g.65359_65360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3307-67_3307-66del ENSP00000483331.2:n.3307-67_3307-66del
ENST00000205557.12:c.3307-67_3307-66del MANE Select ENSP00000205557.7:n.3307-67_3307-66del
ENST00000640696.1:c.321-1695_321-1694del ENSP00000492197.1:n.321-1695_321-1694del
ENST00000205557.11:c.3307-67_3307-66del ENSP00000205557.7:n.3307-67_3307-66del
ENST00000456970.6:c.3132-1695_3132-1694del ENSP00000405002.2:n.3132-1695_3132-1694del
ENST00000622290.4:c.*516-67_*516-66del ENSP00000483331.1:n.*516-67_*516-66del
NM_001171.5:c.3307-67_3307-66del NP_001162.4:n.3307-67_3307-66del
XM_011522479.1:c.3274-67_3274-66del XP_011520781.1:n.3274-67_3274-66del
XM_011522480.1:c.2965-67_2965-66del XP_011520782.1:n.2965-67_2965-66del
XM_011522481.1:c.2965-67_2965-66del XP_011520783.1:n.2965-67_2965-66del
XR_932836.1:n.3542-67_3542-66del
XR_932837.1:n.3543-1695_3543-1694del
XR_932838.1:n.3543-1695_3543-1694del
XR_933133.1:n.407+417_407+418del
XR_933134.1:n.754+417_754+418del
NM_001351800.1:c.2965-67_2965-66del NP_001338729.1:n.2965-67_2965-66del
NR_147784.1:n.3169-1695_3169-1694del
XM_011522479.2:c.3274-67_3274-66del XP_011520781.1:n.3274-67_3274-66del
XM_011522481.3:c.2965-67_2965-66del XP_011520783.1:n.2965-67_2965-66del
XM_017023212.1:c.3139-67_3139-66del XP_016878701.1:n.3139-67_3139-66del
XM_017023214.1:c.3307-1695_3307-1694del XP_016878703.1:n.3307-1695_3307-1694del
XM_024450261.1:c.3343-67_3343-66del XP_024306029.1:n.3343-67_3343-66del
XR_932836.2:n.3488-67_3488-66del
XR_932837.3:n.3488-1695_3488-1694del
XR_932838.3:n.3488-1695_3488-1694del
NM_001171.6:c.3307-67_3307-66del MANE Select NP_001162.5:n.3307-67_3307-66del