Canonical Allele Identifier: CA2806038010
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155157_16155161del , CM000678.2:g.16155157_16155161del GRCh38
NC_000016.9:g.16249014_16249018del , CM000678.1:g.16249014_16249018del GRCh37
NC_000016.8:g.16156515_16156519del NCBI36
NG_007558.2:g.73311_73315del
NG_007558.3:g.73457_73461del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.616_620del
ENST00000622290.5:c.*55-130_*55-126del ENSP00000483331.2:n.*55-130_*55-126del
ENST00000205557.12:c.3883-130_3883-126del MANE Select ENSP00000205557.7:n.3883-130_3883-126del
ENST00000640696.1:c.697-130_697-126del ENSP00000492197.1:n.697-130_697-126del
ENST00000205557.11:c.3883-130_3883-126del ENSP00000205557.7:n.3883-130_3883-126del
ENST00000456970.6:c.3508-130_3508-126del ENSP00000405002.2:n.3508-130_3508-126del
ENST00000576204.5:n.616_620del
ENST00000622290.4:c.*1092-130_*1092-126del ENSP00000483331.1:n.*1092-130_*1092-126del
NM_001171.5:c.3883-130_3883-126del NP_001162.4:n.3883-130_3883-126del
XM_011522479.1:c.3850-130_3850-126del XP_011520781.1:n.3850-130_3850-126del
XM_011522480.1:c.3541-130_3541-126del XP_011520782.1:n.3541-130_3541-126del
XM_011522481.1:c.3541-130_3541-126del XP_011520783.1:n.3541-130_3541-126del
XR_932836.1:n.4181-130_4181-126del
XR_932837.1:n.3919-130_3919-126del
XR_932838.1:n.3982-130_3982-126del
XR_933134.1:n.539-4624_539-4620del
NM_001351800.1:c.3541-130_3541-126del NP_001338729.1:n.3541-130_3541-126del
NR_147784.1:n.3545-130_3545-126del
XM_011522479.2:c.3850-130_3850-126del XP_011520781.1:n.3850-130_3850-126del
XM_011522481.3:c.3541-130_3541-126del XP_011520783.1:n.3541-130_3541-126del
XM_017023212.1:c.3715-130_3715-126del XP_016878701.1:n.3715-130_3715-126del
XM_024450261.1:c.3919-130_3919-126del XP_024306029.1:n.3919-130_3919-126del
XR_932836.2:n.4127-130_4127-126del
XR_932837.3:n.3864-130_3864-126del
XR_932838.3:n.3927-130_3927-126del
NM_001171.6:c.3883-130_3883-126del MANE Select NP_001162.5:n.3883-130_3883-126del