Canonical Allele Identifier: CA2806038051
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155177_16155183del , CM000678.2:g.16155177_16155183del GRCh38
NC_000016.9:g.16249034_16249040del , CM000678.1:g.16249034_16249040del GRCh37
NC_000016.8:g.16156535_16156541del NCBI36
NG_007558.2:g.73289_73295del
NG_007558.3:g.73435_73441del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.594_600del
ENST00000622290.5:c.*55-152_*55-146del ENSP00000483331.2:n.*55-152_*55-146del
ENST00000205557.12:c.3883-152_3883-146del MANE Select ENSP00000205557.7:n.3883-152_3883-146del
ENST00000640696.1:c.697-152_697-146del ENSP00000492197.1:n.697-152_697-146del
ENST00000205557.11:c.3883-152_3883-146del ENSP00000205557.7:n.3883-152_3883-146del
ENST00000456970.6:c.3508-152_3508-146del ENSP00000405002.2:n.3508-152_3508-146del
ENST00000576204.5:n.594_600del
ENST00000622290.4:c.*1092-152_*1092-146del ENSP00000483331.1:n.*1092-152_*1092-146del
NM_001171.5:c.3883-152_3883-146del NP_001162.4:n.3883-152_3883-146del
XM_011522479.1:c.3850-152_3850-146del XP_011520781.1:n.3850-152_3850-146del
XM_011522480.1:c.3541-152_3541-146del XP_011520782.1:n.3541-152_3541-146del
XM_011522481.1:c.3541-152_3541-146del XP_011520783.1:n.3541-152_3541-146del
XR_932836.1:n.4181-152_4181-146del
XR_932837.1:n.3919-152_3919-146del
XR_932838.1:n.3982-152_3982-146del
XR_933134.1:n.539-4604_539-4598del
NM_001351800.1:c.3541-152_3541-146del NP_001338729.1:n.3541-152_3541-146del
NR_147784.1:n.3545-152_3545-146del
XM_011522479.2:c.3850-152_3850-146del XP_011520781.1:n.3850-152_3850-146del
XM_011522481.3:c.3541-152_3541-146del XP_011520783.1:n.3541-152_3541-146del
XM_017023212.1:c.3715-152_3715-146del XP_016878701.1:n.3715-152_3715-146del
XM_024450261.1:c.3919-152_3919-146del XP_024306029.1:n.3919-152_3919-146del
XR_932836.2:n.4127-152_4127-146del
XR_932837.3:n.3864-152_3864-146del
XR_932838.3:n.3927-152_3927-146del
NM_001171.6:c.3883-152_3883-146del MANE Select NP_001162.5:n.3883-152_3883-146del