Canonical Allele Identifier: CA2806038098
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155206_16155207del , CM000678.2:g.16155206_16155207del GRCh38
NC_000016.9:g.16249063_16249064del , CM000678.1:g.16249063_16249064del GRCh37
NC_000016.8:g.16156564_16156565del NCBI36
NG_007558.2:g.73265_73266del
NG_007558.3:g.73411_73412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.570_571del
ENST00000622290.5:c.*55-176_*55-175del ENSP00000483331.2:n.*55-176_*55-175del
ENST00000205557.12:c.3883-176_3883-175del MANE Select ENSP00000205557.7:n.3883-176_3883-175del
ENST00000640696.1:c.697-176_697-175del ENSP00000492197.1:n.697-176_697-175del
ENST00000205557.11:c.3883-176_3883-175del ENSP00000205557.7:n.3883-176_3883-175del
ENST00000456970.6:c.3508-176_3508-175del ENSP00000405002.2:n.3508-176_3508-175del
ENST00000576204.5:n.570_571del
ENST00000622290.4:c.*1092-176_*1092-175del ENSP00000483331.1:n.*1092-176_*1092-175del
NM_001171.5:c.3883-176_3883-175del NP_001162.4:n.3883-176_3883-175del
XM_011522479.1:c.3850-176_3850-175del XP_011520781.1:n.3850-176_3850-175del
XM_011522480.1:c.3541-176_3541-175del XP_011520782.1:n.3541-176_3541-175del
XM_011522481.1:c.3541-176_3541-175del XP_011520783.1:n.3541-176_3541-175del
XR_932836.1:n.4181-176_4181-175del
XR_932837.1:n.3919-176_3919-175del
XR_932838.1:n.3982-176_3982-175del
XR_933134.1:n.539-4575_539-4574del
NM_001351800.1:c.3541-176_3541-175del NP_001338729.1:n.3541-176_3541-175del
NR_147784.1:n.3545-176_3545-175del
XM_011522479.2:c.3850-176_3850-175del XP_011520781.1:n.3850-176_3850-175del
XM_011522481.3:c.3541-176_3541-175del XP_011520783.1:n.3541-176_3541-175del
XM_017023212.1:c.3715-176_3715-175del XP_016878701.1:n.3715-176_3715-175del
XM_024450261.1:c.3919-176_3919-175del XP_024306029.1:n.3919-176_3919-175del
XR_932836.2:n.4127-176_4127-175del
XR_932837.3:n.3864-176_3864-175del
XR_932838.3:n.3927-176_3927-175del
NM_001171.6:c.3883-176_3883-175del MANE Select NP_001162.5:n.3883-176_3883-175del