Canonical Allele Identifier: CA2806038138
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155239_16155241del , CM000678.2:g.16155239_16155241del GRCh38
NC_000016.9:g.16249096_16249098del , CM000678.1:g.16249096_16249098del GRCh37
NC_000016.8:g.16156597_16156599del NCBI36
NG_007558.2:g.73231_73233del
NG_007558.3:g.73377_73379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.536_538del
ENST00000622290.5:c.*55-210_*55-208del ENSP00000483331.2:n.*55-210_*55-208del
ENST00000205557.12:c.3883-210_3883-208del MANE Select ENSP00000205557.7:n.3883-210_3883-208del
ENST00000640696.1:c.697-210_697-208del ENSP00000492197.1:n.697-210_697-208del
ENST00000205557.11:c.3883-210_3883-208del ENSP00000205557.7:n.3883-210_3883-208del
ENST00000456970.6:c.3508-210_3508-208del ENSP00000405002.2:n.3508-210_3508-208del
ENST00000576204.5:n.536_538del
ENST00000622290.4:c.*1092-210_*1092-208del ENSP00000483331.1:n.*1092-210_*1092-208del
NM_001171.5:c.3883-210_3883-208del NP_001162.4:n.3883-210_3883-208del
XM_011522479.1:c.3850-210_3850-208del XP_011520781.1:n.3850-210_3850-208del
XM_011522480.1:c.3541-210_3541-208del XP_011520782.1:n.3541-210_3541-208del
XM_011522481.1:c.3541-210_3541-208del XP_011520783.1:n.3541-210_3541-208del
XR_932836.1:n.4181-210_4181-208del
XR_932837.1:n.3919-210_3919-208del
XR_932838.1:n.3982-210_3982-208del
XR_933134.1:n.539-4542_539-4540del
NM_001351800.1:c.3541-210_3541-208del NP_001338729.1:n.3541-210_3541-208del
NR_147784.1:n.3545-210_3545-208del
XM_011522479.2:c.3850-210_3850-208del XP_011520781.1:n.3850-210_3850-208del
XM_011522481.3:c.3541-210_3541-208del XP_011520783.1:n.3541-210_3541-208del
XM_017023212.1:c.3715-210_3715-208del XP_016878701.1:n.3715-210_3715-208del
XM_024450261.1:c.3919-210_3919-208del XP_024306029.1:n.3919-210_3919-208del
XR_932836.2:n.4127-210_4127-208del
XR_932837.3:n.3864-210_3864-208del
XR_932838.3:n.3927-210_3927-208del
NM_001171.6:c.3883-210_3883-208del MANE Select NP_001162.5:n.3883-210_3883-208del