Canonical Allele Identifier: CA2806038083
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155197_16155202del , CM000678.2:g.16155197_16155202del GRCh38
NC_000016.9:g.16249054_16249059del , CM000678.1:g.16249054_16249059del GRCh37
NC_000016.8:g.16156555_16156560del NCBI36
NG_007558.2:g.73270_73275del
NG_007558.3:g.73416_73421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.575_580del
ENST00000622290.5:c.*55-171_*55-166del ENSP00000483331.2:n.*55-171_*55-166del
ENST00000205557.12:c.3883-171_3883-166del MANE Select ENSP00000205557.7:n.3883-171_3883-166del
ENST00000640696.1:c.697-171_697-166del ENSP00000492197.1:n.697-171_697-166del
ENST00000205557.11:c.3883-171_3883-166del ENSP00000205557.7:n.3883-171_3883-166del
ENST00000456970.6:c.3508-171_3508-166del ENSP00000405002.2:n.3508-171_3508-166del
ENST00000576204.5:n.575_580del
ENST00000622290.4:c.*1092-171_*1092-166del ENSP00000483331.1:n.*1092-171_*1092-166del
NM_001171.5:c.3883-171_3883-166del NP_001162.4:n.3883-171_3883-166del
XM_011522479.1:c.3850-171_3850-166del XP_011520781.1:n.3850-171_3850-166del
XM_011522480.1:c.3541-171_3541-166del XP_011520782.1:n.3541-171_3541-166del
XM_011522481.1:c.3541-171_3541-166del XP_011520783.1:n.3541-171_3541-166del
XR_932836.1:n.4181-171_4181-166del
XR_932837.1:n.3919-171_3919-166del
XR_932838.1:n.3982-171_3982-166del
XR_933134.1:n.539-4584_539-4579del
NM_001351800.1:c.3541-171_3541-166del NP_001338729.1:n.3541-171_3541-166del
NR_147784.1:n.3545-171_3545-166del
XM_011522479.2:c.3850-171_3850-166del XP_011520781.1:n.3850-171_3850-166del
XM_011522481.3:c.3541-171_3541-166del XP_011520783.1:n.3541-171_3541-166del
XM_017023212.1:c.3715-171_3715-166del XP_016878701.1:n.3715-171_3715-166del
XM_024450261.1:c.3919-171_3919-166del XP_024306029.1:n.3919-171_3919-166del
XR_932836.2:n.4127-171_4127-166del
XR_932837.3:n.3864-171_3864-166del
XR_932838.3:n.3927-171_3927-166del
NM_001171.6:c.3883-171_3883-166del MANE Select NP_001162.5:n.3883-171_3883-166del