Canonical Allele Identifier: CA2631961836

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159426-GCCCCCCCCCACAATATGTCCTTGCTGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159432_16159460del , CM000678.2:g.16159432_16159460del	GRCh38
NC_000016.9:g.16253289_16253317del , CM000678.1:g.16253289_16253317del	GRCh37
NC_000016.8:g.16160790_16160818del	NCBI36
NG_007558.2:g.69017_69045del
NG_007558.3:g.69163_69191del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3735+27_3735+55del	ENSP00000483331.2:n.3735+27_3735+55del
ENST00000205557.12:c.3735+27_3735+55del MANE Select	ENSP00000205557.7:n.3735+27_3735+55del
ENST00000640696.1:c.549+27_549+55del	ENSP00000492197.1:n.549+27_549+55del
ENST00000205557.11:c.3735+27_3735+55del	ENSP00000205557.7:n.3735+27_3735+55del
ENST00000456970.6:c.3360+27_3360+55del	ENSP00000405002.2:n.3360+27_3360+55del
ENST00000622290.4:c.*944+27_*944+55del	ENSP00000483331.1:n.*944+27_*944+55del
NM_001171.5:c.3735+27_3735+55del	NP_001162.4:n.3735+27_3735+55del
XM_011522479.1:c.3702+27_3702+55del	XP_011520781.1:n.3702+27_3702+55del
XM_011522480.1:c.3393+27_3393+55del	XP_011520782.1:n.3393+27_3393+55del
XM_011522481.1:c.3393+27_3393+55del	XP_011520783.1:n.3393+27_3393+55del
XR_932836.1:n.3970+27_3970+55del
XR_932837.1:n.3771+27_3771+55del
XR_932838.1:n.3771+27_3771+55del
XR_933134.1:n.539-349_539-321del
NM_001351800.1:c.3393+27_3393+55del	NP_001338729.1:n.3393+27_3393+55del
NR_147784.1:n.3397+27_3397+55del
XM_011522479.2:c.3702+27_3702+55del	XP_011520781.1:n.3702+27_3702+55del
XM_011522481.3:c.3393+27_3393+55del	XP_011520783.1:n.3393+27_3393+55del
XM_017023212.1:c.3567+27_3567+55del	XP_016878701.1:n.3567+27_3567+55del
XM_024450261.1:c.3771+27_3771+55del	XP_024306029.1:n.3771+27_3771+55del
XR_932836.2:n.3916+27_3916+55del
XR_932837.3:n.3716+27_3716+55del
XR_932838.3:n.3716+27_3716+55del
NM_001171.6:c.3735+27_3735+55del MANE Select	NP_001162.5:n.3735+27_3735+55del