Canonical Allele Identifier: CA2806037103
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159672_16159673del , CM000678.2:g.16159672_16159673del GRCh38
NC_000016.9:g.16253529_16253530del , CM000678.1:g.16253529_16253530del GRCh37
NC_000016.8:g.16161030_16161031del NCBI36
NG_007558.2:g.68799_68800del
NG_007558.3:g.68945_68946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3634-90_3634-89del ENSP00000483331.2:n.3634-90_3634-89del
ENST00000205557.12:c.3634-90_3634-89del MANE Select ENSP00000205557.7:n.3634-90_3634-89del
ENST00000640696.1:c.448-90_448-89del ENSP00000492197.1:n.448-90_448-89del
ENST00000205557.11:c.3634-90_3634-89del ENSP00000205557.7:n.3634-90_3634-89del
ENST00000456970.6:c.3259-90_3259-89del ENSP00000405002.2:n.3259-90_3259-89del
ENST00000622290.4:c.*843-90_*843-89del ENSP00000483331.1:n.*843-90_*843-89del
NM_001171.5:c.3634-90_3634-89del NP_001162.4:n.3634-90_3634-89del
XM_011522479.1:c.3601-90_3601-89del XP_011520781.1:n.3601-90_3601-89del
XM_011522480.1:c.3292-90_3292-89del XP_011520782.1:n.3292-90_3292-89del
XM_011522481.1:c.3292-90_3292-89del XP_011520783.1:n.3292-90_3292-89del
XR_932836.1:n.3869-90_3869-89del
XR_932837.1:n.3670-90_3670-89del
XR_932838.1:n.3670-90_3670-89del
XR_933133.1:n.83_84del
XR_933134.1:n.539-109_539-108del
NM_001351800.1:c.3292-90_3292-89del NP_001338729.1:n.3292-90_3292-89del
NR_147784.1:n.3296-90_3296-89del
XM_011522479.2:c.3601-90_3601-89del XP_011520781.1:n.3601-90_3601-89del
XM_011522481.3:c.3292-90_3292-89del XP_011520783.1:n.3292-90_3292-89del
XM_017023212.1:c.3466-90_3466-89del XP_016878701.1:n.3466-90_3466-89del
XM_024450261.1:c.3670-90_3670-89del XP_024306029.1:n.3670-90_3670-89del
XR_932836.2:n.3815-90_3815-89del
XR_932837.3:n.3615-90_3615-89del
XR_932838.3:n.3615-90_3615-89del
NM_001171.6:c.3634-90_3634-89del MANE Select NP_001162.5:n.3634-90_3634-89del