Canonical Allele Identifier: CA2806038113
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155217_16155219del , CM000678.2:g.16155217_16155219del GRCh38
NC_000016.9:g.16249074_16249076del , CM000678.1:g.16249074_16249076del GRCh37
NC_000016.8:g.16156575_16156577del NCBI36
NG_007558.2:g.73253_73255del
NG_007558.3:g.73399_73401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.558_560del
ENST00000622290.5:c.*55-188_*55-186del ENSP00000483331.2:n.*55-188_*55-186del
ENST00000205557.12:c.3883-188_3883-186del MANE Select ENSP00000205557.7:n.3883-188_3883-186del
ENST00000640696.1:c.697-188_697-186del ENSP00000492197.1:n.697-188_697-186del
ENST00000205557.11:c.3883-188_3883-186del ENSP00000205557.7:n.3883-188_3883-186del
ENST00000456970.6:c.3508-188_3508-186del ENSP00000405002.2:n.3508-188_3508-186del
ENST00000576204.5:n.558_560del
ENST00000622290.4:c.*1092-188_*1092-186del ENSP00000483331.1:n.*1092-188_*1092-186del
NM_001171.5:c.3883-188_3883-186del NP_001162.4:n.3883-188_3883-186del
XM_011522479.1:c.3850-188_3850-186del XP_011520781.1:n.3850-188_3850-186del
XM_011522480.1:c.3541-188_3541-186del XP_011520782.1:n.3541-188_3541-186del
XM_011522481.1:c.3541-188_3541-186del XP_011520783.1:n.3541-188_3541-186del
XR_932836.1:n.4181-188_4181-186del
XR_932837.1:n.3919-188_3919-186del
XR_932838.1:n.3982-188_3982-186del
XR_933134.1:n.539-4564_539-4562del
NM_001351800.1:c.3541-188_3541-186del NP_001338729.1:n.3541-188_3541-186del
NR_147784.1:n.3545-188_3545-186del
XM_011522479.2:c.3850-188_3850-186del XP_011520781.1:n.3850-188_3850-186del
XM_011522481.3:c.3541-188_3541-186del XP_011520783.1:n.3541-188_3541-186del
XM_017023212.1:c.3715-188_3715-186del XP_016878701.1:n.3715-188_3715-186del
XM_024450261.1:c.3919-188_3919-186del XP_024306029.1:n.3919-188_3919-186del
XR_932836.2:n.4127-188_4127-186del
XR_932837.3:n.3864-188_3864-186del
XR_932838.3:n.3927-188_3927-186del
NM_001171.6:c.3883-188_3883-186del MANE Select NP_001162.5:n.3883-188_3883-186del