Canonical Allele Identifier: CA2806038114
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155217_16155221del , CM000678.2:g.16155217_16155221del GRCh38
NC_000016.9:g.16249074_16249078del , CM000678.1:g.16249074_16249078del GRCh37
NC_000016.8:g.16156575_16156579del NCBI36
NG_007558.2:g.73251_73255del
NG_007558.3:g.73397_73401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.556_560del
ENST00000622290.5:c.*55-190_*55-186del ENSP00000483331.2:n.*55-190_*55-186del
ENST00000205557.12:c.3883-190_3883-186del MANE Select ENSP00000205557.7:n.3883-190_3883-186del
ENST00000640696.1:c.697-190_697-186del ENSP00000492197.1:n.697-190_697-186del
ENST00000205557.11:c.3883-190_3883-186del ENSP00000205557.7:n.3883-190_3883-186del
ENST00000456970.6:c.3508-190_3508-186del ENSP00000405002.2:n.3508-190_3508-186del
ENST00000576204.5:n.556_560del
ENST00000622290.4:c.*1092-190_*1092-186del ENSP00000483331.1:n.*1092-190_*1092-186del
NM_001171.5:c.3883-190_3883-186del NP_001162.4:n.3883-190_3883-186del
XM_011522479.1:c.3850-190_3850-186del XP_011520781.1:n.3850-190_3850-186del
XM_011522480.1:c.3541-190_3541-186del XP_011520782.1:n.3541-190_3541-186del
XM_011522481.1:c.3541-190_3541-186del XP_011520783.1:n.3541-190_3541-186del
XR_932836.1:n.4181-190_4181-186del
XR_932837.1:n.3919-190_3919-186del
XR_932838.1:n.3982-190_3982-186del
XR_933134.1:n.539-4564_539-4560del
NM_001351800.1:c.3541-190_3541-186del NP_001338729.1:n.3541-190_3541-186del
NR_147784.1:n.3545-190_3545-186del
XM_011522479.2:c.3850-190_3850-186del XP_011520781.1:n.3850-190_3850-186del
XM_011522481.3:c.3541-190_3541-186del XP_011520783.1:n.3541-190_3541-186del
XM_017023212.1:c.3715-190_3715-186del XP_016878701.1:n.3715-190_3715-186del
XM_024450261.1:c.3919-190_3919-186del XP_024306029.1:n.3919-190_3919-186del
XR_932836.2:n.4127-190_4127-186del
XR_932837.3:n.3864-190_3864-186del
XR_932838.3:n.3927-190_3927-186del
NM_001171.6:c.3883-190_3883-186del MANE Select NP_001162.5:n.3883-190_3883-186del