Canonical Allele Identifier: CA2210131649
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159455_16159456delinsAC , CM000678.2:g.16159455_16159456delinsAC GRCh38
NC_000016.9:g.16253312_16253313delinsAC , CM000678.1:g.16253312_16253313delinsAC GRCh37
NC_000016.8:g.16160813_16160814delinsAC NCBI36
NG_007558.2:g.69016_69017delinsGT
NG_007558.3:g.69162_69163delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000622290.5:c.3735+26_3735+27delinsGT ENSP00000483331.2:n.3735+26_3735+27delinsGT
ENST00000205557.12:c.3735+26_3735+27delinsGT MANE Select ENSP00000205557.7:n.3735+26_3735+27delinsGT
ENST00000640696.1:c.549+26_549+27delinsGT ENSP00000492197.1:n.549+26_549+27delinsGT
ENST00000205557.11:c.3735+26_3735+27delinsGT ENSP00000205557.7:n.3735+26_3735+27delinsGT
ENST00000456970.6:c.3360+26_3360+27delinsGT ENSP00000405002.2:n.3360+26_3360+27delinsGT
ENST00000622290.4:c.*944+26_*944+27delinsGT ENSP00000483331.1:n.*944+26_*944+27delinsGT
NM_001171.5:c.3735+26_3735+27delinsGT NP_001162.4:n.3735+26_3735+27delinsGT
XM_011522479.1:c.3702+26_3702+27delinsGT XP_011520781.1:n.3702+26_3702+27delinsGT
XM_011522480.1:c.3393+26_3393+27delinsGT XP_011520782.1:n.3393+26_3393+27delinsGT
XM_011522481.1:c.3393+26_3393+27delinsGT XP_011520783.1:n.3393+26_3393+27delinsGT
XR_932836.1:n.3970+26_3970+27delinsGT
XR_932837.1:n.3771+26_3771+27delinsGT
XR_932838.1:n.3771+26_3771+27delinsGT
XR_933134.1:n.539-326_539-325delinsAC
NM_001351800.1:c.3393+26_3393+27delinsGT NP_001338729.1:n.3393+26_3393+27delinsGT
NR_147784.1:n.3397+26_3397+27delinsGT
XM_011522479.2:c.3702+26_3702+27delinsGT XP_011520781.1:n.3702+26_3702+27delinsGT
XM_011522481.3:c.3393+26_3393+27delinsGT XP_011520783.1:n.3393+26_3393+27delinsGT
XM_017023212.1:c.3567+26_3567+27delinsGT XP_016878701.1:n.3567+26_3567+27delinsGT
XM_024450261.1:c.3771+26_3771+27delinsGT XP_024306029.1:n.3771+26_3771+27delinsGT
XR_932836.2:n.3916+26_3916+27delinsGT
XR_932837.3:n.3716+26_3716+27delinsGT
XR_932838.3:n.3716+26_3716+27delinsGT
NM_001171.6:c.3735+26_3735+27delinsGT MANE Select NP_001162.5:n.3735+26_3735+27delinsGT