Canonical Allele Identifier: CA2806038007
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155154_16155155del , CM000678.2:g.16155154_16155155del GRCh38
NC_000016.9:g.16249011_16249012del , CM000678.1:g.16249011_16249012del GRCh37
NC_000016.8:g.16156512_16156513del NCBI36
NG_007558.2:g.73317_73318del
NG_007558.3:g.73463_73464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.622_623del
ENST00000622290.5:c.*55-124_*55-123del ENSP00000483331.2:n.*55-124_*55-123del
ENST00000205557.12:c.3883-124_3883-123del MANE Select ENSP00000205557.7:n.3883-124_3883-123del
ENST00000640696.1:c.697-124_697-123del ENSP00000492197.1:n.697-124_697-123del
ENST00000205557.11:c.3883-124_3883-123del ENSP00000205557.7:n.3883-124_3883-123del
ENST00000456970.6:c.3508-124_3508-123del ENSP00000405002.2:n.3508-124_3508-123del
ENST00000576204.5:n.622_623del
ENST00000622290.4:c.*1092-124_*1092-123del ENSP00000483331.1:n.*1092-124_*1092-123del
NM_001171.5:c.3883-124_3883-123del NP_001162.4:n.3883-124_3883-123del
XM_011522479.1:c.3850-124_3850-123del XP_011520781.1:n.3850-124_3850-123del
XM_011522480.1:c.3541-124_3541-123del XP_011520782.1:n.3541-124_3541-123del
XM_011522481.1:c.3541-124_3541-123del XP_011520783.1:n.3541-124_3541-123del
XR_932836.1:n.4181-124_4181-123del
XR_932837.1:n.3919-124_3919-123del
XR_932838.1:n.3982-124_3982-123del
XR_933134.1:n.539-4627_539-4626del
NM_001351800.1:c.3541-124_3541-123del NP_001338729.1:n.3541-124_3541-123del
NR_147784.1:n.3545-124_3545-123del
XM_011522479.2:c.3850-124_3850-123del XP_011520781.1:n.3850-124_3850-123del
XM_011522481.3:c.3541-124_3541-123del XP_011520783.1:n.3541-124_3541-123del
XM_017023212.1:c.3715-124_3715-123del XP_016878701.1:n.3715-124_3715-123del
XM_024450261.1:c.3919-124_3919-123del XP_024306029.1:n.3919-124_3919-123del
XR_932836.2:n.4127-124_4127-123del
XR_932837.3:n.3864-124_3864-123del
XR_932838.3:n.3927-124_3927-123del
NM_001171.6:c.3883-124_3883-123del MANE Select NP_001162.5:n.3883-124_3883-123del