Canonical Allele Identifier: CA2806037755
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16162888_16162990del , CM000678.2:g.16162888_16162990del GRCh38
NC_000016.9:g.16256745_16256847del , CM000678.1:g.16256745_16256847del GRCh37
NC_000016.8:g.16164246_16164348del NCBI36
NG_007558.2:g.65483_65585del
NG_007558.3:g.65629_65731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3506+4_3506+106del ENSP00000483331.2:n.3506+4_3506+106del
ENST00000205557.12:c.3506+4_3506+106del MANE Select ENSP00000205557.7:n.3506+4_3506+106del
ENST00000640696.1:c.321-1425_321-1323del ENSP00000492197.1:n.321-1425_321-1323del
ENST00000205557.11:c.3506+4_3506+106del ENSP00000205557.7:n.3506+4_3506+106del
ENST00000456970.6:c.3132-1425_3132-1323del ENSP00000405002.2:n.3132-1425_3132-1323del
ENST00000622290.4:c.*715+4_*715+106del ENSP00000483331.1:n.*715+4_*715+106del
NM_001171.5:c.3506+4_3506+106del NP_001162.4:n.3506+4_3506+106del
XM_011522479.1:c.3473+4_3473+106del XP_011520781.1:n.3473+4_3473+106del
XM_011522480.1:c.3164+4_3164+106del XP_011520782.1:n.3164+4_3164+106del
XM_011522481.1:c.3164+4_3164+106del XP_011520783.1:n.3164+4_3164+106del
XR_932836.1:n.3741+4_3741+106del
XR_932837.1:n.3543-1425_3543-1323del
XR_932838.1:n.3543-1425_3543-1323del
XR_933133.1:n.407+45_407+147del
XR_933134.1:n.754+45_754+147del
NM_001351800.1:c.3164+4_3164+106del NP_001338729.1:n.3164+4_3164+106del
NR_147784.1:n.3169-1425_3169-1323del
XM_011522479.2:c.3473+4_3473+106del XP_011520781.1:n.3473+4_3473+106del
XM_011522481.3:c.3164+4_3164+106del XP_011520783.1:n.3164+4_3164+106del
XM_017023212.1:c.3338+4_3338+106del XP_016878701.1:n.3338+4_3338+106del
XM_017023214.1:c.3307-1425_3307-1323del XP_016878703.1:n.3307-1425_3307-1323del
XM_024450261.1:c.3542+4_3542+106del XP_024306029.1:n.3542+4_3542+106del
XR_932836.2:n.3687+4_3687+106del
XR_932837.3:n.3488-1425_3488-1323del
XR_932838.3:n.3488-1425_3488-1323del
NM_001171.6:c.3506+4_3506+106del MANE Select NP_001162.5:n.3506+4_3506+106del