Canonical Allele Identifier: CA2806038073
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155193_16155208del , CM000678.2:g.16155193_16155208del GRCh38
NC_000016.9:g.16249050_16249065del , CM000678.1:g.16249050_16249065del GRCh37
NC_000016.8:g.16156551_16156566del NCBI36
NG_007558.2:g.73269_73284del
NG_007558.3:g.73415_73430del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.574_589del
ENST00000622290.5:c.*55-172_*55-157del ENSP00000483331.2:n.*55-172_*55-157del
ENST00000205557.12:c.3883-172_3883-157del MANE Select ENSP00000205557.7:n.3883-172_3883-157del
ENST00000640696.1:c.697-172_697-157del ENSP00000492197.1:n.697-172_697-157del
ENST00000205557.11:c.3883-172_3883-157del ENSP00000205557.7:n.3883-172_3883-157del
ENST00000456970.6:c.3508-172_3508-157del ENSP00000405002.2:n.3508-172_3508-157del
ENST00000576204.5:n.574_589del
ENST00000622290.4:c.*1092-172_*1092-157del ENSP00000483331.1:n.*1092-172_*1092-157del
NM_001171.5:c.3883-172_3883-157del NP_001162.4:n.3883-172_3883-157del
XM_011522479.1:c.3850-172_3850-157del XP_011520781.1:n.3850-172_3850-157del
XM_011522480.1:c.3541-172_3541-157del XP_011520782.1:n.3541-172_3541-157del
XM_011522481.1:c.3541-172_3541-157del XP_011520783.1:n.3541-172_3541-157del
XR_932836.1:n.4181-172_4181-157del
XR_932837.1:n.3919-172_3919-157del
XR_932838.1:n.3982-172_3982-157del
XR_933134.1:n.539-4588_539-4573del
NM_001351800.1:c.3541-172_3541-157del NP_001338729.1:n.3541-172_3541-157del
NR_147784.1:n.3545-172_3545-157del
XM_011522479.2:c.3850-172_3850-157del XP_011520781.1:n.3850-172_3850-157del
XM_011522481.3:c.3541-172_3541-157del XP_011520783.1:n.3541-172_3541-157del
XM_017023212.1:c.3715-172_3715-157del XP_016878701.1:n.3715-172_3715-157del
XM_024450261.1:c.3919-172_3919-157del XP_024306029.1:n.3919-172_3919-157del
XR_932836.2:n.4127-172_4127-157del
XR_932837.3:n.3864-172_3864-157del
XR_932838.3:n.3927-172_3927-157del
NM_001171.6:c.3883-172_3883-157del MANE Select NP_001162.5:n.3883-172_3883-157del