Canonical Allele Identifier: CA2631961874

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159437-CAATATGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159438_16159444del , CM000678.2:g.16159438_16159444del	GRCh38
NC_000016.9:g.16253295_16253301del , CM000678.1:g.16253295_16253301del	GRCh37
NC_000016.8:g.16160796_16160802del	NCBI36
NG_007558.2:g.69028_69034del
NG_007558.3:g.69174_69180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3735+38_3735+44del	ENSP00000483331.2:n.3735+38_3735+44del
ENST00000205557.12:c.3735+38_3735+44del MANE Select	ENSP00000205557.7:n.3735+38_3735+44del
ENST00000640696.1:c.549+38_549+44del	ENSP00000492197.1:n.549+38_549+44del
ENST00000205557.11:c.3735+38_3735+44del	ENSP00000205557.7:n.3735+38_3735+44del
ENST00000456970.6:c.3360+38_3360+44del	ENSP00000405002.2:n.3360+38_3360+44del
ENST00000622290.4:c.*944+38_*944+44del	ENSP00000483331.1:n.*944+38_*944+44del
NM_001171.5:c.3735+38_3735+44del	NP_001162.4:n.3735+38_3735+44del
XM_011522479.1:c.3702+38_3702+44del	XP_011520781.1:n.3702+38_3702+44del
XM_011522480.1:c.3393+38_3393+44del	XP_011520782.1:n.3393+38_3393+44del
XM_011522481.1:c.3393+38_3393+44del	XP_011520783.1:n.3393+38_3393+44del
XR_932836.1:n.3970+38_3970+44del
XR_932837.1:n.3771+38_3771+44del
XR_932838.1:n.3771+38_3771+44del
XR_933134.1:n.539-343_539-337del
NM_001351800.1:c.3393+38_3393+44del	NP_001338729.1:n.3393+38_3393+44del
NR_147784.1:n.3397+38_3397+44del
XM_011522479.2:c.3702+38_3702+44del	XP_011520781.1:n.3702+38_3702+44del
XM_011522481.3:c.3393+38_3393+44del	XP_011520783.1:n.3393+38_3393+44del
XM_017023212.1:c.3567+38_3567+44del	XP_016878701.1:n.3567+38_3567+44del
XM_024450261.1:c.3771+38_3771+44del	XP_024306029.1:n.3771+38_3771+44del
XR_932836.2:n.3916+38_3916+44del
XR_932837.3:n.3716+38_3716+44del
XR_932838.3:n.3716+38_3716+44del
NM_001171.6:c.3735+38_3735+44del MANE Select	NP_001162.5:n.3735+38_3735+44del