Canonical Allele Identifier: CA2806038026
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155172_16155175del , CM000678.2:g.16155172_16155175del GRCh38
NC_000016.9:g.16249029_16249032del , CM000678.1:g.16249029_16249032del GRCh37
NC_000016.8:g.16156530_16156533del NCBI36
NG_007558.2:g.73300_73303del
NG_007558.3:g.73446_73449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.605_608del
ENST00000622290.5:c.*55-141_*55-138del ENSP00000483331.2:n.*55-141_*55-138del
ENST00000205557.12:c.3883-141_3883-138del MANE Select ENSP00000205557.7:n.3883-141_3883-138del
ENST00000640696.1:c.697-141_697-138del ENSP00000492197.1:n.697-141_697-138del
ENST00000205557.11:c.3883-141_3883-138del ENSP00000205557.7:n.3883-141_3883-138del
ENST00000456970.6:c.3508-141_3508-138del ENSP00000405002.2:n.3508-141_3508-138del
ENST00000576204.5:n.605_608del
ENST00000622290.4:c.*1092-141_*1092-138del ENSP00000483331.1:n.*1092-141_*1092-138del
NM_001171.5:c.3883-141_3883-138del NP_001162.4:n.3883-141_3883-138del
XM_011522479.1:c.3850-141_3850-138del XP_011520781.1:n.3850-141_3850-138del
XM_011522480.1:c.3541-141_3541-138del XP_011520782.1:n.3541-141_3541-138del
XM_011522481.1:c.3541-141_3541-138del XP_011520783.1:n.3541-141_3541-138del
XR_932836.1:n.4181-141_4181-138del
XR_932837.1:n.3919-141_3919-138del
XR_932838.1:n.3982-141_3982-138del
XR_933134.1:n.539-4609_539-4606del
NM_001351800.1:c.3541-141_3541-138del NP_001338729.1:n.3541-141_3541-138del
NR_147784.1:n.3545-141_3545-138del
XM_011522479.2:c.3850-141_3850-138del XP_011520781.1:n.3850-141_3850-138del
XM_011522481.3:c.3541-141_3541-138del XP_011520783.1:n.3541-141_3541-138del
XM_017023212.1:c.3715-141_3715-138del XP_016878701.1:n.3715-141_3715-138del
XM_024450261.1:c.3919-141_3919-138del XP_024306029.1:n.3919-141_3919-138del
XR_932836.2:n.4127-141_4127-138del
XR_932837.3:n.3864-141_3864-138del
XR_932838.3:n.3927-141_3927-138del
NM_001171.6:c.3883-141_3883-138del MANE Select NP_001162.5:n.3883-141_3883-138del