Canonical Allele Identifier: CA2631961868

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159435-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159437_16159439del , CM000678.2:g.16159437_16159439del	GRCh38
NC_000016.9:g.16253294_16253296del , CM000678.1:g.16253294_16253296del	GRCh37
NC_000016.8:g.16160795_16160797del	NCBI36
NG_007558.2:g.69034_69036del
NG_007558.3:g.69180_69182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3735+44_3735+46del	ENSP00000483331.2:n.3735+44_3735+46del
ENST00000205557.12:c.3735+44_3735+46del MANE Select	ENSP00000205557.7:n.3735+44_3735+46del
ENST00000640696.1:c.549+44_549+46del	ENSP00000492197.1:n.549+44_549+46del
ENST00000205557.11:c.3735+44_3735+46del	ENSP00000205557.7:n.3735+44_3735+46del
ENST00000456970.6:c.3360+44_3360+46del	ENSP00000405002.2:n.3360+44_3360+46del
ENST00000622290.4:c.*944+44_*944+46del	ENSP00000483331.1:n.*944+44_*944+46del
NM_001171.5:c.3735+44_3735+46del	NP_001162.4:n.3735+44_3735+46del
XM_011522479.1:c.3702+44_3702+46del	XP_011520781.1:n.3702+44_3702+46del
XM_011522480.1:c.3393+44_3393+46del	XP_011520782.1:n.3393+44_3393+46del
XM_011522481.1:c.3393+44_3393+46del	XP_011520783.1:n.3393+44_3393+46del
XR_932836.1:n.3970+44_3970+46del
XR_932837.1:n.3771+44_3771+46del
XR_932838.1:n.3771+44_3771+46del
XR_933134.1:n.539-344_539-342del
NM_001351800.1:c.3393+44_3393+46del	NP_001338729.1:n.3393+44_3393+46del
NR_147784.1:n.3397+44_3397+46del
XM_011522479.2:c.3702+44_3702+46del	XP_011520781.1:n.3702+44_3702+46del
XM_011522481.3:c.3393+44_3393+46del	XP_011520783.1:n.3393+44_3393+46del
XM_017023212.1:c.3567+44_3567+46del	XP_016878701.1:n.3567+44_3567+46del
XM_024450261.1:c.3771+44_3771+46del	XP_024306029.1:n.3771+44_3771+46del
XR_932836.2:n.3916+44_3916+46del
XR_932837.3:n.3716+44_3716+46del
XR_932838.3:n.3716+44_3716+46del
NM_001171.6:c.3735+44_3735+46del MANE Select	NP_001162.5:n.3735+44_3735+46del