Canonical Allele Identifier: CA2695195866
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159426_16159427delinsGC , CM000678.2:g.16159426_16159427delinsGC GRCh38
NC_000016.9:g.16253283_16253284delinsGC , CM000678.1:g.16253283_16253284delinsGC GRCh37
NC_000016.8:g.16160784_16160785delinsGC NCBI36
NG_007558.2:g.69045_69046delinsGC
NG_007558.3:g.69191_69192delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000622290.5:c.3735+55_3735+56delinsGC ENSP00000483331.2:n.3735+55_3735+56delinsGC
ENST00000205557.12:c.3735+55_3735+56delinsGC MANE Select ENSP00000205557.7:n.3735+55_3735+56delinsGC
ENST00000640696.1:c.549+55_549+56delinsGC ENSP00000492197.1:n.549+55_549+56delinsGC
ENST00000205557.11:c.3735+55_3735+56delinsGC ENSP00000205557.7:n.3735+55_3735+56delinsGC
ENST00000456970.6:c.3360+55_3360+56delinsGC ENSP00000405002.2:n.3360+55_3360+56delinsGC
ENST00000622290.4:c.*944+55_*944+56delinsGC ENSP00000483331.1:n.*944+55_*944+56delinsGC
NM_001171.5:c.3735+55_3735+56delinsGC NP_001162.4:n.3735+55_3735+56delinsGC
XM_011522479.1:c.3702+55_3702+56delinsGC XP_011520781.1:n.3702+55_3702+56delinsGC
XM_011522480.1:c.3393+55_3393+56delinsGC XP_011520782.1:n.3393+55_3393+56delinsGC
XM_011522481.1:c.3393+55_3393+56delinsGC XP_011520783.1:n.3393+55_3393+56delinsGC
XR_932836.1:n.3970+55_3970+56delinsGC
XR_932837.1:n.3771+55_3771+56delinsGC
XR_932838.1:n.3771+55_3771+56delinsGC
XR_933134.1:n.539-355_539-354delinsGC
NM_001351800.1:c.3393+55_3393+56delinsGC NP_001338729.1:n.3393+55_3393+56delinsGC
NR_147784.1:n.3397+55_3397+56delinsGC
XM_011522479.2:c.3702+55_3702+56delinsGC XP_011520781.1:n.3702+55_3702+56delinsGC
XM_011522481.3:c.3393+55_3393+56delinsGC XP_011520783.1:n.3393+55_3393+56delinsGC
XM_017023212.1:c.3567+55_3567+56delinsGC XP_016878701.1:n.3567+55_3567+56delinsGC
XM_024450261.1:c.3771+55_3771+56delinsGC XP_024306029.1:n.3771+55_3771+56delinsGC
XR_932836.2:n.3916+55_3916+56delinsGC
XR_932837.3:n.3716+55_3716+56delinsGC
XR_932838.3:n.3716+55_3716+56delinsGC
NM_001171.6:c.3735+55_3735+56delinsGC MANE Select NP_001162.5:n.3735+55_3735+56delinsGC