Canonical Allele Identifier: CA2732119323

Gene: ABCC6

Linked Data

• dbSNP Id: rs2152218313

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159324_16159326del , CM000678.2:g.16159324_16159326del	GRCh38
NC_000016.9:g.16253181_16253183del , CM000678.1:g.16253181_16253183del	GRCh37
NC_000016.8:g.16160682_16160684del	NCBI36
NG_007558.2:g.69146_69148del
NG_007558.3:g.69292_69294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3735+156_3735+158del	ENSP00000483331.2:n.3735+156_3735+158del
ENST00000205557.12:c.3735+156_3735+158del MANE Select	ENSP00000205557.7:n.3735+156_3735+158del
ENST00000640696.1:c.549+156_549+158del	ENSP00000492197.1:n.549+156_549+158del
ENST00000205557.11:c.3735+156_3735+158del	ENSP00000205557.7:n.3735+156_3735+158del
ENST00000456970.6:c.3360+156_3360+158del	ENSP00000405002.2:n.3360+156_3360+158del
ENST00000622290.4:c.*944+156_*944+158del	ENSP00000483331.1:n.*944+156_*944+158del
NM_001171.5:c.3735+156_3735+158del	NP_001162.4:n.3735+156_3735+158del
XM_011522479.1:c.3702+156_3702+158del	XP_011520781.1:n.3702+156_3702+158del
XM_011522480.1:c.3393+156_3393+158del	XP_011520782.1:n.3393+156_3393+158del
XM_011522481.1:c.3393+156_3393+158del	XP_011520783.1:n.3393+156_3393+158del
XR_932836.1:n.3970+156_3970+158del
XR_932837.1:n.3771+156_3771+158del
XR_932838.1:n.3771+156_3771+158del
XR_933134.1:n.539-457_539-455del
NM_001351800.1:c.3393+156_3393+158del	NP_001338729.1:n.3393+156_3393+158del
NR_147784.1:n.3397+156_3397+158del
XM_011522479.2:c.3702+156_3702+158del	XP_011520781.1:n.3702+156_3702+158del
XM_011522481.3:c.3393+156_3393+158del	XP_011520783.1:n.3393+156_3393+158del
XM_017023212.1:c.3567+156_3567+158del	XP_016878701.1:n.3567+156_3567+158del
XM_024450261.1:c.3771+156_3771+158del	XP_024306029.1:n.3771+156_3771+158del
XR_932836.2:n.3916+156_3916+158del
XR_932837.3:n.3716+156_3716+158del
XR_932838.3:n.3716+156_3716+158del
NM_001171.6:c.3735+156_3735+158del MANE Select	NP_001162.5:n.3735+156_3735+158del