Canonical Allele Identifier: CA2806038038
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155172_16155174del , CM000678.2:g.16155172_16155174del GRCh38
NC_000016.9:g.16249029_16249031del , CM000678.1:g.16249029_16249031del GRCh37
NC_000016.8:g.16156530_16156532del NCBI36
NG_007558.2:g.73298_73300del
NG_007558.3:g.73444_73446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.603_605del
ENST00000622290.5:c.*55-143_*55-141del ENSP00000483331.2:n.*55-143_*55-141del
ENST00000205557.12:c.3883-143_3883-141del MANE Select ENSP00000205557.7:n.3883-143_3883-141del
ENST00000640696.1:c.697-143_697-141del ENSP00000492197.1:n.697-143_697-141del
ENST00000205557.11:c.3883-143_3883-141del ENSP00000205557.7:n.3883-143_3883-141del
ENST00000456970.6:c.3508-143_3508-141del ENSP00000405002.2:n.3508-143_3508-141del
ENST00000576204.5:n.603_605del
ENST00000622290.4:c.*1092-143_*1092-141del ENSP00000483331.1:n.*1092-143_*1092-141del
NM_001171.5:c.3883-143_3883-141del NP_001162.4:n.3883-143_3883-141del
XM_011522479.1:c.3850-143_3850-141del XP_011520781.1:n.3850-143_3850-141del
XM_011522480.1:c.3541-143_3541-141del XP_011520782.1:n.3541-143_3541-141del
XM_011522481.1:c.3541-143_3541-141del XP_011520783.1:n.3541-143_3541-141del
XR_932836.1:n.4181-143_4181-141del
XR_932837.1:n.3919-143_3919-141del
XR_932838.1:n.3982-143_3982-141del
XR_933134.1:n.539-4609_539-4607del
NM_001351800.1:c.3541-143_3541-141del NP_001338729.1:n.3541-143_3541-141del
NR_147784.1:n.3545-143_3545-141del
XM_011522479.2:c.3850-143_3850-141del XP_011520781.1:n.3850-143_3850-141del
XM_011522481.3:c.3541-143_3541-141del XP_011520783.1:n.3541-143_3541-141del
XM_017023212.1:c.3715-143_3715-141del XP_016878701.1:n.3715-143_3715-141del
XM_024450261.1:c.3919-143_3919-141del XP_024306029.1:n.3919-143_3919-141del
XR_932836.2:n.4127-143_4127-141del
XR_932837.3:n.3864-143_3864-141del
XR_932838.3:n.3927-143_3927-141del
NM_001171.6:c.3883-143_3883-141del MANE Select NP_001162.5:n.3883-143_3883-141del