Canonical Allele Identifier: CA2806037022
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159441_16159442insGG , CM000678.2:g.16159441_16159442insGG GRCh38
NC_000016.9:g.16253298_16253299insGG , CM000678.1:g.16253298_16253299insGG GRCh37
NC_000016.8:g.16160799_16160800insGG NCBI36
NG_007558.2:g.69030_69031insCC
NG_007558.3:g.69176_69177insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3735+40_3735+41insCC ENSP00000483331.2:n.3735+40_3735+41insCC
ENST00000205557.12:c.3735+40_3735+41insCC MANE Select ENSP00000205557.7:n.3735+40_3735+41insCC
ENST00000640696.1:c.549+40_549+41insCC ENSP00000492197.1:n.549+40_549+41insCC
ENST00000205557.11:c.3735+40_3735+41insCC ENSP00000205557.7:n.3735+40_3735+41insCC
ENST00000456970.6:c.3360+40_3360+41insCC ENSP00000405002.2:n.3360+40_3360+41insCC
ENST00000622290.4:c.*944+40_*944+41insCC ENSP00000483331.1:n.*944+40_*944+41insCC
NM_001171.5:c.3735+40_3735+41insCC NP_001162.4:n.3735+40_3735+41insCC
XM_011522479.1:c.3702+40_3702+41insCC XP_011520781.1:n.3702+40_3702+41insCC
XM_011522480.1:c.3393+40_3393+41insCC XP_011520782.1:n.3393+40_3393+41insCC
XM_011522481.1:c.3393+40_3393+41insCC XP_011520783.1:n.3393+40_3393+41insCC
XR_932836.1:n.3970+40_3970+41insCC
XR_932837.1:n.3771+40_3771+41insCC
XR_932838.1:n.3771+40_3771+41insCC
XR_933134.1:n.539-340_539-339insGG
NM_001351800.1:c.3393+40_3393+41insCC NP_001338729.1:n.3393+40_3393+41insCC
NR_147784.1:n.3397+40_3397+41insCC
XM_011522479.2:c.3702+40_3702+41insCC XP_011520781.1:n.3702+40_3702+41insCC
XM_011522481.3:c.3393+40_3393+41insCC XP_011520783.1:n.3393+40_3393+41insCC
XM_017023212.1:c.3567+40_3567+41insCC XP_016878701.1:n.3567+40_3567+41insCC
XM_024450261.1:c.3771+40_3771+41insCC XP_024306029.1:n.3771+40_3771+41insCC
XR_932836.2:n.3916+40_3916+41insCC
XR_932837.3:n.3716+40_3716+41insCC
XR_932838.3:n.3716+40_3716+41insCC
NM_001171.6:c.3735+40_3735+41insCC MANE Select NP_001162.5:n.3735+40_3735+41insCC